Optic atrophy genes dominant. Medical search. Frequent questions

A rare form of autosomal dominant optic atrophy (ADOA) characterized by progressive and isolated visual loss in the first decade of life decreased reflexes in the lower limbs and a mild cerebellar stance. (globalgenes.org)
Neurophth Therapeutics today announced the Australian Therapeutic Goods Administration (TGA) has registered and approved its candidate drug, NFS-05, for clinical trials targeting autosomal dominant optic atrophy (ADOA). (ophthalmologytimes.com)
According to the company, ADOA is an autosomal dominant inherited optic neuropathy, and about 80% of ADOA is caused by mutations in the OPA1 gene. (ophthalmologytimes.com)
Moreover, the company noted that there are no effective treatments on the market for ADOA in clinical practice and its proprietary ophthalmic injection, NFS-05, utilizes a gene therapy approach that delivers an AAV vector containing the OPA1 gene into the vitreous cavity. (ophthalmologytimes.com)
Autosomal dominant optic atrophy (ADOA) is a slowly progressive optic neuropathy that has been associated with mutations of the OPA1 gene. (ox.ac.uk)
C3-Opa1(Q285STOP) mouse model of ADOA displays optic nerve abnormalities, RGC dendropathy and functional visual disruption. (ox.ac.uk)
Autosomal Dominant Optic Atrophy (ADOA) is the most common dominantly inherited optic neuropathy. (opticnervenetwork.com)
On May 16, 2022, the Company expects to present preclinical data supporting its approach to treating ADOA with STK-002 at the American Society of Gene and Cell Therapy (ASGCT) Annual Meeting, at 10:30am ET. (financialcontent.com)
Here, we report the results of a comprehensive study on OPA3 mutations, including the mutation spectrum and its prevalence in a large cohort of OPA1-negative autosomal dominant optic atrophy (ADOA) patients, the associated clinical phenotype and the functional characterisation of a newly identified OPA3 mutant. (uni-muenchen.de)
Autosomal dominant optic atrophy (ADOA), caused by mutations in OPA1, is a neurodegenerative disease affecting mainly retinal ganglion cells (RGCs). (omicsdi.org)
Autosomal Dominant Optic Atrophy (ADOA) is the most common inherited optic atrophy where vision impairment results from specific loss of retinal ganglion cells of the optic nerve. (omicsdi.org)
Around 60% of ADOA cases are linked to mutations in the OPA1 gene. (omicsdi.org)
Autosomal dominant optic atrophy (ADOA), a form of progressive bilateral blindness due to loss of retinal ganglion cells and optic nerve deterioration, arises predominantly from mutations in the nuclear gene for the mitochondrial GTPase, OPA1. (omicsdi.org)
While OPA1 has been characterized for its role in mitochondrial cristae structure and organelle fusion, possible effects of OPA1 on mitochondrial function have not been determined.Mitochondria from six ADOA patients bearing OPA1 mutations and ten ADOA patients with unidentified gene mutations were studied for respiratory capacity and electron transport complex function. (omicsdi.org)
In June, the Company completed enrollment (n=48) in the FALCON natural history study of people ages 8 to 60 who have an established clinical diagnosis of ADOA that is caused by a heterozygous OPA1 gene variant. (stoketherapeutics.com)
In April, the Company received authorization of its Clinical Trial Application (CTA) by the United Kingdom Medicines and Healthcare products Regulatory Agency (MHRA) to initiate a Phase 1 study (OSPREY) of STK-002 for the treatment of autosomal dominant optic atrophy (ADOA), the most common inherited optic nerve disorder. (stoketherapeutics.com)
OSPREY is a study of children and adults ages 6 to 55 who have an established diagnosis of ADOA and have evidence of a genetic mutation in the OPA1 gene. (stoketherapeutics.com)
Stoke is pursuing the development of STK-002 for the treatment of autosomal dominant optic atrophy (ADOA), the most common inherited optic nerve disorder. (fatpitchfinancials.com)

Dynamin-like 120 kDa protein, mitochondrial is a protein that in humans is encoded by the OPA1 gene. (wikipedia.org)
Dominant optic atrophy (DOA) in particular has been traced to mutations in the GTPase domain of OPA1, leading to sensorineural hearing loss, ataxia, sensorimotor neuropathy, progressive external ophthalmoplegia, and mitochondrial myopathy. (wikipedia.org)
OPA1, the gene responsible for autosomal dominant optic atrophy, represents a good candidate gene for normal-tension glaucoma (NTG). (nih.gov)
We investigated whether these polymorphisms in the OPA1 gene were associated with NTG in Korea. (nih.gov)
C) in the OPA1 gene were determined using the restriction fragment length polymorphism method. (nih.gov)
These results do not support the results in Caucasians and indicate that ethnic differences may exist in the association between polymorphisms in the OPA1 gene and NTG. (nih.gov)
Linkage was demonstrated between the disease gene (OPA1) and the microsatellite markers D3S1314, D3S1262, D3S1265 and D3S1601, with the highest Lod score to D3S1601 Z=11.75. (nih.gov)
All markers are located on chromosome 3q in the telomeric area, the most probable location for the OPA1 gene being D3S1601-OPA1-D3S1265. (nih.gov)
According to the company, NFS-05, utilizes a gene therapy approach that delivers an AAV vector containing the OPA1 gene into the vitreous cavity. (ophthalmologytimes.com)
The reduction in OPA1 protein function leads to mitochondrial fragmentation, and increased instability of the mitochondrial respiratory chain complex, which damages mitochondrial function and ultimately results in RGC cell death and optic nerve atrophy. (ophthalmologytimes.com)
Interestingly, MFN2 shows functional overlap with the OPA1 gene, the protein underlying the most common form of autosomal dominant optic atrophy. (neuroophthalmology.ca)
Despite this, we are not aware of any reports of HSMN, type VI associated with mutations in the OPA1 gene. (neuroophthalmology.ca)
The most relevant proteins involved in the mitochondrial fusion process are three GTPase dynamin-like proteins: mitofusin 1 (MFN1) and 2 (MFN2), located in the outer mitochondrial membrane, and optic atrophy protein 1 (OPA1), in the inner membrane. (centrodinoferrari.com)
An expanding number of degenerative disorders are associated with mutations in the genes encoding MFN2 and OPA1, including Charcot-Marie-Tooth disease type 2A and autosomal dominant optic atrophy. (centrodinoferrari.com)
A gene (OPA1) provides instructions for making a protein that is found in cells and tissues throughout the body, and which is pivotal for maintaining proper function in mitochondria, which are the energy producers in cells. (science-and-technology-news.com)
The scientists also found that their gene therapy improved mitochondrial performance in human cells that contained mutations in the OPA1 gene, offering hope that it may be effective in people. (science-and-technology-news.com)
Excitingly, our results demonstrate that this OPA1-based gene therapy can potentially provide benefit for diseases like DOA, which are due to OPA1 mutations, and also possibly for a wider array of diseases involving mitochondrial dysfunction. (science-and-technology-news.com)
The most commonly associated phenotype with OPA1 mutations is heterozygous optic atrophy, a heterozygous dominant trait that causes reduced visual clarity and sometimes blindness. (thermofisher.com)
Optic atrophy gene 1 (OPA1) is an inner membrane protein important for mitochondrial fusion. (omicsdi.org)
Opa1(enu/+) mice show a slow progressive loss of RGCs, activation of astroglia and microglia, and pronounced mitochondrial fission in optic nerve heads as found by electron tomography. (omicsdi.org)
Mitochondrial oxidative phosphorylation compensation may preserve vision in patients with OPA1-linked autosomal dominant optic atrophy. (omicsdi.org)
Purpose: To investigate whether recently described polymorphisms in the optic atrophy 1 gene (OPA1) are associated with primary open-angle glaucoma (POAG) with elevated intraocular pressure in the Caucasian, African-American, and Ghanaian (West African) populations. (elsevierpure.com)

Autosomal dominant optic atrophy and cataract is one form of autosomal dominant optic atrophy, a group of conditions that are estimated to affect 1 in 30,000 people worldwide, and approximately 1 in 10,000 people in Denmark. (medlineplus.gov)

Autosomal dominant optic atrophy and cataract is caused by mutations in a gene called OPA3 . (medlineplus.gov)
Zuchner S, et al: Axonal neuropathy with optic atrophy is caused by mutations in mitofusin 2. (neuroophthalmology.ca)
In summary, our study provides new insights into the clinical spectrum and the pathogenesis of dominant optic atrophy caused by mutations in the OPA3 gene. (uni-muenchen.de)
Kozlowski type of spondylometaphyseal dysplasia results in severe kyphoscoliosis and is caused by mutations in the TRPV4 gene (locus 12q24.1). (orpha.net)

Some people with autosomal dominant optic atrophy and cataract develop disturbances in the function of other nerves (neuropathy) besides the optic nerves. (medlineplus.gov)
It is likely that nerve cells in other parts of the body are similarly affected by dysfunctional mitochondria, resulting in the signs and symptoms of neuropathy in individuals with autosomal dominant optic atrophy and cataract. (medlineplus.gov)
Newly diagnosed with Autosomal dominant optic atrophy and peripheral neuropathy? (globalgenes.org)
Mutations in this gene have been associated with optic atrophy type 1, which is a dominantly inherited optic neuropathy resulting in progressive loss of visual acuity, leading in many cases to legal blindness. (wikipedia.org)
In conditions with primary optic atrophy (eg, pituitary tumor, optic nerve tumor, traumatic optic neuropathy, multiple sclerosis), optic nerve fibers degenerate in an orderly manner and are replaced by columns of glial cells without alteration in the architecture of the optic nerve head. (medscape.com)
Our most advanced investigational gene therapy drug candidate, NR082, used for the treatment of Leber's hereditary optic neuropathy (LHON) associated with mtND4 mutation (ND4-LHON), has been granted orphan drug designation (ODD) by the U.S. FDA and the European Medicines Agency (EMA). (ophthalmologytimes.com)
Voo I, et al: Hereditary motor and sensory neuropathy type VI with optic atrophy. (neuroophthalmology.ca)
Patients with symptoms suggestive of inherited optic neuropathy are candidates. (preventiongenetics.com)
Optic Atrophy (OA) is the most prevalent inherited optic neuropathy besides Leber's hereditary optic neuropathy (LHON). (preventiongenetics.com)
Dominant optic atrophy and Leber hereditary optic neuropathy are uncommon inherited disorders that damage the optic nerve, causing vision loss. (msdmanuals.com)
Dominant optic atrophy causes gradual slow vision loss over years to decades, while Leber hereditary optic neuropathy causes more rapid vision loss over weeks to months. (msdmanuals.com)
Dominant optic atrophy and Leber hereditary optic neuropathy are inherited disorders caused by abnormal genes. (msdmanuals.com)
Leber hereditary optic neuropathy is more common among males. (msdmanuals.com)
In Leber hereditary optic neuropathy , vision loss usually begins between the ages of 15 and 35. (msdmanuals.com)
People who may have Leber hereditary optic neuropathy undergo electrocardiography to assess their heart. (msdmanuals.com)
Leber's hereditary optic neuropathy (LHON) and Dominant Optic Atrophy (DOA) are common cause of vision loss. (unibo.it)
Affected individuals mainly presented with spasticity (24/31), ataxia (28/31), neuropathy (11/21), and optic atrophy (9/17). (cegat.com)

form the optic nerves, so when retinal ganglion cells die, the optic nerves atrophy and cannot transmit visual information to the brain. (medlineplus.gov)
In patients, the disease primarily affects the retinal ganglion cells (RGCs) and causes optic nerve atrophy and visual loss. (ox.ac.uk)

Atrophy of these nerves causes an abnormally pale appearance (pallor) of the optic nerves, which can be seen only during an eye examination. (medlineplus.gov)
Degenerated axons lose this optical property, explaining the pallor in optic atrophy. (medscape.com)
The company also noted that patients diagnosed with the disease present with bilateral, slowly progressing visual impairment, temporal pallor of the optic disc, central visual field defects, and abnormalities in color vision. (ophthalmologytimes.com)
This 47 year-old woman was seen for bilateral optic disc pallor. (neuroophthalmology.ca)
Examination by a neurologist documented mild temporal pallor of the optic discs, Automated perimetry 5 and 4 years ago showed some scattered relative depression OS, and visual evoked potentials showed prolonged p100 latencies bilaterally. (neuroophthalmology.ca)
Fundoscopy shows optic discs with diffuse pallor and cupping. (neuroophthalmology.ca)
2011). Other symptoms include central or near central scotomas, tritanopia, variable degree of ptosis, central visual field defects and/or ophthalmalgia and optic nerve pallor. (preventiongenetics.com)

In the present study, we identified a heterozygous 51 bp deletion (c.1699_1749del51) in ACO2 in a family with autosomal dominant inherited isolated optic atrophy. (huji.ac.il)

Estimates of the different types of genetic deafness exceed 400, and to date, 60 genes for syndromic and nonsyndromic hearing loss have been identified. (nature.com)
Unlike the recessively inherited Wolfram syndrome, WFS1 heterozygous variants cause DFNA6/14/38 and wolfram-like syndrome, characterized by autosomal dominant nonsyndromic hearing loss, optic atrophy, and diabetes mellitus. (biomedcentral.com)

The protein produced from this gene is made in cells and tissues throughout the body. (medlineplus.gov)
This gene product is a nuclear-encoded mitochondrial protein with similarity to dynamin-related GTPases. (wikipedia.org)
This disorder is inherited in an autosomal dominant pattern as a result of a mutation in the OP3 gene (19q13.2-q13.3) encoding an inner membrane mitochondrial protein. (arizona.edu)
Dominant disorders Genes are segments of deoxyribonucleic acid (DNA) that contain the code for a specific protein that functions in one or more types of cells in the body or code for functional RNA molecules. (msdmanuals.com)
We aim to extend the mutation spectrum of spastic paraplegia 4 (SPG4) and carried out experiment in vitro to explore the influence of the SPAST gene mutation on the function of corresponding protein. (hspersunite.org.au)
Wolfram syndrome type 1 gene ( WFS1 ), which encodes a transmembrane structural protein (wolframin), is essential for several biological processes, including proper inner ear function. (biomedcentral.com)
Mutations in the SYNGAP1 gene (which produces the SynGAP protein) were first identified in 2009 and since then, an increasing number of children with SYNGAP1 syndrome have been identified. (stoketherapeutics.com)
Using Stoke's proprietary TANGO (Targeted Augmentation of Nuclear Gene Output) approach, Stoke is developing antisense oligonucleotides (ASOs) to selectively restore protein levels. (fatpitchfinancials.com)

The results provide support to growing evidence that the melanopsin-expressing RGCs are protected in mitochondrial optic neuropathies. (ox.ac.uk)
Identification of genetic variants that enable this response may provide novel therapeutic insights into OXPHOS compensation for preventing vision loss in optic neuropathies. (omicsdi.org)
Caporali, Leonardo (2018) The role of mitochondrial genome in inherited optic neuropathies , [Dissertation thesis], Alma Mater Studiorum Università di Bologna. (unibo.it)

Optic atrophy is the final common morphologic endpoint of disease process that causes degeneration of axons of the ganglion cells. (medscape.com)
Retrograde degeneration - Degeneration starts from the proximal portion of the axon and proceeds toward the optic disc (eg, optic nerve compression by intracranial tumor). (medscape.com)
Optic nerve fibers exhibit marked degeneration, with excessive proliferation of glial tissue. (medscape.com)
1993). The Complicated form of the HSP shows additional neurological signs such as amyotrophy, mental retardation, pigmentary retinal degeneration, optic atrophy, extrapyramidal features, cerebellar ataxia, ichthyosis etc. (preventiongenetics.com)
Characterised by degeneration of the optic nerves, DOA typically starts to cause symptoms in patients in their early adult years. (science-and-technology-news.com)
Usually, this phenotype is attributed to the degeneration of optic nerve fibers. (thermofisher.com)

Our study reveals that a monoallelic mutation in ACO2 is sufficient to promote mitochondrial dysfunction and increased vulnerability to oxidative stress as main drivers of cell death related to optic nerve atrophy. (huji.ac.il)

Typical symptoms of relapses may be referable to demyelinating pathology involving the optic nerves (e.g. optic neuritis), brainstem (e.g. internuclear ophthalmoplegia) or spinal cord (e.g. partial myelitis), although non-specific symptoms referable to the cerebral hemispheres or other brain regions can also occur (Katz Sand and Lublin, 2013). (medscape.com)

Autosomal dominant optic atrophy and cataract is an eye disorder that is characterized by impaired vision. (medlineplus.gov)
Several abnormalities contribute to impaired vision in people with autosomal dominant optic atrophy and cataract. (medlineplus.gov)
A form of optic atrophy called optic atrophy type 1 accounts for most cases, while autosomal dominant optic atrophy and cataract is thought to represent only a few percent of autosomal dominant optic atrophy cases. (medlineplus.gov)
r)ry Y, Lenaers G, Bonneau D. OPA3 gene mutations responsible for autosomal dominant optic atrophy and cataract . (arizona.edu)
Mutations in OPA3 have been reported in patients with autosomal dominant optic atrophy plus cataract and Costeff syndrome. (uni-muenchen.de)

Comparison of the clinical phenotypes suggests that OPA3 mutations can additionally evoke hearing loss and by that extend the clinical manifestation of OPA3-associated optic atrophy. (uni-muenchen.de)
Thus, a thorough analysis of the clinical profiles and genotypes of these rare genes related to deafness is essential. (biomedcentral.com)
Several single gene disorders share clinical and radiologic characteristics with multiple sclerosis and have the potential to be overlooked in the differential diagnostic evaluation of both adult and paediatric patients with multiple sclerosis. (medscape.com)
Here we review single gene disorders that have the potential to mimic multiple sclerosis, provide an overview of clinical and investigational characteristics of each disorder, and present guidelines for when clinicians should suspect an underlying heritable disorder that requires diagnostic confirmation in a patient with a definite or probable diagnosis of multiple sclerosis. (medscape.com)

The scientists, led by Dr Daniel Maloney and Professor Jane Farrar from Trinity's School of Genetics and Microbiology, have developed a new gene therapy, which successfully protected the visual function of mice who were treated with a chemical targeting the mitochondria and were consequently living with dysfunctional mitochondria. (science-and-technology-news.com)
Mitochondria are structures in cells that provide energy for the cell and have their own internal genes that are inherited from only the mother. (msdmanuals.com)

HSMN, type VI, which we believe this patient to have, is an autosomal dominantly inherited axonal sensorimotor polyneuropathy associated with optic atrophy. (neuroophthalmology.ca)

Congenital chloride diarrhea and Pendred syndrome: case report of siblings with two rare recessive disorders of SLC26 family genes. (oru.se)
Available at https://www.ninds.nih.gov/health-information/disorders/olivopontocerebellar-atrophy . (medscape.com)
This section considers studies of the structure and function of genes and chromosomes, with relation to human health and disease and the role of genetic mutations and cytogenetic changes in human genetic disorders. (biomedcentral.com)
Overview of Optic Nerve Disorders The small photoreceptor cells of the retina (the inner surface at the back of the eye) sense light and transmit impulses to the optic nerve. (msdmanuals.com)
Testing can identify some of the abnormal genes responsible for the disorders but not all. (msdmanuals.com)

Increased mitochondrial fission and volume density by blocking glutamate excitotoxicity protect glaucomatous optic nerve head astrocytes. (omicsdi.org)

Pathogenic variants in MFN2 gene are commonly associated with autosomal dominant (CMT2A2A) or recessive (CMT2A2B) Charcot-Marie-Tooth disease, with possible involvement of the central nervous system. (bvsalud.org)
[ 1 , 2 ] Eight mutations on AQP2 gene are associated with autosomal dominant nephrogenic DI, and 32 mutations are associated with autosomal recessive nephrogenic DI. (medscape.com)

It is unclear how OPA3 gene mutations lead to cataracts and other eye problems that can occur in autosomal dominant optic atrophy and cataracts. (medlineplus.gov)
Optic atrophy 3 is less severe than in Behr optic atrophy and the presence of cataracts is an important distinguishing feature. (arizona.edu)

Alternatively, DI may be idiopathic or inherited as either an autosomal dominant or an autosomal recessive trait (locus 20p13). (medscape.com)

Mutations in the OPA3 gene lead to abnormal mitochondrial function. (medlineplus.gov)

Eight transcript variants encoding different isoforms, resulting from alternative splicing of exon 4 and two novel exons named 4b and 5b, have been reported for this gene. (wikipedia.org)
Study of the Genetic Variants in BRCA1/2 and Non-BRCA Genes in a Population-Based Cohort of 2155 Breast/Ovary Cancer Patients, Including 443 Triple-Negative Breast Cancer Patients, in Argentina. (cdc.gov)
A genomic analysis can identify gene variants whose pathogenicity. (pasteur.fr)
We focus on screening for mutations in SPAST gene and carrying out functional experiments to assess the effects of the novel variants. (hspersunite.org.au)

1 The expression patterns of these genes in the inner ear can be visualized on the Hereditary Hearing Loss Homepage ( http://webh01.ua.ac.be/hhh/ ) ( Fig. 1 ). (nature.com)
Using data from the Danish Family Register of Hereditary Eye Diseases, the minimum prevalence rate was estimated to 1:12.301, making DOA the most common hereditary optic atrophy. (nih.gov)
Gene-burden analyses were performed on exome and genome data of independent cohorts of patients with hereditary ataxia and spastic paraplegia from Germany and the United Kingdom in a total of 3169 patients and 33,141 controls. (cegat.com)
BACKGROUND: Mutations in the SPAST gene are the most frequent cause of hereditary spastic paraplegia (HSP). (hspersunite.org.au)

Mutations in the ACO2 gene were identified in patients suffering from a broad range of symptoms, including optic nerve atrophy, cortical atrophy, cerebellar atrophy, hypotonia, seizures and intellectual disabilities. (huji.ac.il)

Clinically, the light incident from the ophthalmoscope undergoes total internal reflection through the axonal fibers, and subsequent reflection from the capillaries on the disc surface gives rise to the characteristic yellow-pink color of a healthy optic disc. (medscape.com)
The most common presentation is that of an autosomal dominant demyelinating sensorimotor polyneuropathy (CMT 1) with the second most common presentation being an autosomal dominant axonal sensorimotor polyneuropathy (CMT 2). (neuroophthalmology.ca)

With NFS-05, Neurophth endeavors to target the underlying cause of the disease using gene therapy, aiming for enhanced visual outcomes for patients," Guo said in the news release. (ophthalmologytimes.com)
Scientists from Trinity College Dublin have developed a new gene therapy approach that offers promise for one day treating an eye disease that leads to a progressive loss of vision and affects thousands of people across the globe. (science-and-technology-news.com)
Scientists have developed a new gene-therapy technique by transforming human cells into mass producers of tiny nano-sized particles full of genetic material that has the potential to reverse disease processes. (science-and-technology-news.com)
Dominant optic atrophy (DOA) is one of the most common forms of mitochondrial disease. (pasteur.fr)

[ 1 ] Clinically, optic atrophy manifests as changes in the color and the structure of the optic disc (cupping) associated with variable degrees of visual dysfunction. (medscape.com)
Clinically, testing of GJB2 and GJB6 plays a prominent role in diagnosis and genetic counseling because mutations in these genes account for more than 50% of severe-to-profound autosomal recessive nonsyndromic deafness in many world populations. (nature.com)
Sixty-two patients from three large Danish families with autosomal dominant optic atrophy were clinically examined, and retrospective follow-up was made on 30 patients. (nih.gov)

Care of olivopontocerebellar atrophy (OPCA) is directed to the treatment of symptoms. (medscape.com)

Recognition of a single-gene disorder as causal for a patient's 'multiple sclerosis-like' phenotype is critically important for accurate direction of patient management, and evokes broader genetic counselling implications for affected families. (medscape.com)

Visual impairment from optic atrophy may be evident in infancy and some patients experience a worsening in late adulthood. (arizona.edu)

Thus, the optic nerve behaves more like a white matter tract rather than a true peripheral nerve. (medscape.com)

A genetic hearing loss may be inherited in an autosomal dominant, autosomal recessive, or X-linked Mendelian manner, or through the maternal lineage by mitochondrial inheritance. (nature.com)
Progressive familial intrahepatic cholestasis (PFIC) type 3 is an autosomal recessive disorder arising from mutations in the ATP-binding cassette subfamily B member 4 ( ABCB4 ) gene. (biomedcentral.com)
It is allelic to autosomal recessive optic atrophy-3, or 3-methylglutaconic aciduria type III ( 258501 ), sometimes called Behr early onset optic atrophy ( 210000 ). (arizona.edu)
Several autosomal recessive forms have also been identified, including type A4 and an axial type associated with retinitis pigmentosa and optic atrophy. (orpha.net)

Interestingly, a few deafness-related genes with distinct phenotypes exist depending on the genotype and inheritance pattern. (biomedcentral.com)

HSMN with spastic paraparesis, or HSMN with optic atrophy) and/or patterns of inheritance (i.e. (neuroophthalmology.ca)
Better understanding of new mutations and the wide range of possible phenotypes led to the development of a new nomenclature proposal, based on the gene and inheritance pattern. (medscape.com)

LHON is due in 90% of cases to three common point mutations in mitochondrial genome (mtDNA), affecting complex I subunit genes. (unibo.it)

The most common OA is inherited in an autosomal dominant (AD) mode (DOA). (preventiongenetics.com)

Now that genetic testing is available, it can be performed to confirm the diagnosis of autosomal dominant OPCAs. (medscape.com)
Ultragenyx will build a new gene therapy manufacturing facility in Bedford Ultragenyx Pharmaceutical, a US biopharmaceutical company focused on the identification, acquisition, development, and commercialization of novel products for the treatment of rare and ultra-rare genetic diseases, plans to build a new large-scale gene therapy manufacturing facility in Bedford, Massachusetts. (biopharmanalyses.fr)
Moreover, functional classifications of genetic hearing loss, based on tonotopic expression patterns in the inner ear, as well as molecular insights from genetically engineered models, suggest promising approaches for targeted drug and gene therapy [ 13 ]. (biomedcentral.com)

At times, olivopontocerebellar atrophy (OPCA) patients may require enteral feeding to decrease the risk of aspiration. (medscape.com)
Mutations in DNM1L (DRP1), which encode a key player of mitochondrial and peroxisomal fission, have been reported in patients with the variable phenotypic spectrum, ranging from non-syndromic optic atrophy to lethal infantile encephalopathy. (bvsalud.org)

It is characterized by slowly progressive weakness and atrophy of the feet, calves, hands and forearms. (neuroophthalmology.ca)

The optic nerve head sits at a major transition between an area of high pressure to an area of low pressure (intracranial pressure) and is composed of 4 types of cells: ganglion cell axons, astrocytes, capillary-associated cells, and fibroblasts. (medscape.com)

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. (mousephenotype.org)

As dysphagia progresses with olivopontocerebellar atrophy (OPCA), a pureed diet or enteral feeding may be required. (medscape.com)

Dominant ACO2 mutations are a frequent cause of isolated optic atrophy. (cdc.gov)

Recently, mutations in the mitofusin 2 (MFN2) gene have been associated with HSMN, type 6. (neuroophthalmology.ca)
Gene Therapy for Mucopolysaccharidosis Type II-A Review of the Current Possibilities. (cdc.gov)
Lastly, some moderate forms are at present not well classified and other forms have also been identified, including type A4, and an axial type associated with retinitis pigmentosa and optic atrophy (see these terms). (orpha.net)
Kozlowski type of spondylometaphyseal dysplasia is transmitted in an autosomal dominant manner, as well as the form of spondylometaphyseal dysplasia referred to as the 'corner fracture' or Sutcliffe type and the Algerian (or Schmidt) type. (orpha.net)
WFS1 is a good example of this type of gene. (biomedcentral.com)

UCHL1 was prioritized in both independent cohorts as a candidate gene for an autosomal dominant disorder. (cegat.com)

Anatomy10

Diseases41

Chemicals and Drugs10

Analytical, Diagnostic and Therapeutic Techniques and Equipment8

Psychiatry and Psychology4

Phenomena and Processes18

Disciplines and Occupations1

Technology, Industry, Agriculture1

Information Science2

ADOA18

OPA122

Form of autosomal dominant optic a1

Caused by mutations4

Neuropathy17

Retinal gangl2

Pallor7

Autosomal dominant inherited1

Nonsyndromic hear2

Protein8

Neuropathies3

Degeneration6

Mutation1

Nerves1

Cataract5

Clinical4

Mitochondria2

Dominantly inherited1

Disorders5

Glaucomatous optic1

Associated with autosomal dominant2

Cataracts2

Locus1

OPA31

Variants4

Hereditary4

Cortical1

Axonal2

Disease4

Clinically3

Symptoms1

Phenotype1

Infancy1

Peripheral1

Recessive4

Interestingly1

Inheritance2

MtDNA1

Common1

Genetic3

Patients2

Slowly progressive1

Fibroblasts1

Mice1

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ACO21

Type5

Candidate gene1