HGPS is one of the laminopathies, caused by a (usually sporadic) mutation in the LMNA gene. (aad.org)
Encodes lamin A and lamin2
Mammalian genomes contain 3 lamin genes: LMNA, which encodes lamin A and lamin C (A-type lamins), as well as LMNB1 and LMNB2 that encode lamin B1 and B2 (B-type lamins), respectively. (aad.org)
Thus far among the lamins, these have been described only for LMNA , which maps to chromosome 1q21.2 and encodes lamin A and lamin C through alternative splicing. (bmj.com)
Genes4
Contains probes for the LMNA and CAV3 genes involved in LGMD1B and 1C. (mrcholland.com)
In humans, seven alternatively spliced forms derive from three genes- LMNA , LMNB1 , and LMNB2 . (bmj.com)
Mutations in LMNA, LMNB, ZMPSTE24, and other genes lead to structural and functional abnormalities associated with lamins. (bvsalud.org)
Proporciona un análisis completo de los genes implicados en esta enfermedad utilizando secuenciación de próxima generación (NGS) para comprender completamente el espectro de genes relevantes implicados y su penetrancia alta o intermedia. (igenomix.com)
Mutations4
ZMPSTE24-dependent cleavage of prelamin A and the eight known disease-associated ZMPSTE24 missense mutations, were examined. (cusabio.com)
One subtype of laminopathy is the generalized lipodystrophy-associated progeroid syndrome (GLPS), which occurs in patients with heterozygous mutations of the LMNA gene c.29C>T(p.T10I). (bvsalud.org)
Communication n° 568 Introduction Mutations in LMNA encoding Lamins A/C are responsible of several disorders named laminopathies involving striated muscles as well as adipose, nervous, cutaneous and skeletal tissues. (myobase.org)
MADB is caused by reduced activity of the enzyme zinc metalloprotease ZMPSTE24 resulting from compound heterozygous or homozygous mutations in ZMPSTE24 . (biomedcentral.com)
Lamin2
Proteolytic cleavage by the ZMPSTE24 protease removes the last 15 amino acid residues and the hydrophobic farnesyl group to produce mature lamin A, which is found both at the NL and in the nuclear interior. (aad.org)
A normal level of zinc metalloprotease is necessary to cleave the prenatylated and carboxylated 15-amino acid tail from the C-terminus of prelamin A to yield mature lamin A. The decreased function of zinc metalloprotease ZMPSTE24 leads to an abnormal accumulation of lamin A precursors. (biomedcentral.com)
Missense1
Tyr399Cys) missense variant in the ZMPSTE24 gene, confirming MADB. (biomedcentral.com)
Homozygous2
A boy with this disorder is described who has a homozygous R527H substitution in LMNA . (bmj.com)
We report on eight related Surinamese patients with MADB due to a homozygous founder mutation in ZMPSTE24 . (biomedcentral.com)
Activity1
ZMPSTE24 is a downstream effector of IFITM3 and is important for interferon-induced transmembrane antiviral activity. (cusabio.com)
Gene7
The LMNA gene provides instructions for making two related proteins, lamin A and lamin C. These proteins act as scaffolding (supporting) components of the nuclear envelope, which is the membrane that surrounds the nucleus in cells. (medlineplus.gov)
Mutation in the LMNA gene causes overproduction of progerin, a farnesylated-aberrant protein. (medscape.com)
This leaves the intact premature Lamin A bonded to the methylated carboxyl farnesyl group creating the defective protein Progerin, rather than the desired protein matured Lamin A. Approximately 90% of all Hutchinson-Gilford progeriasyndrome cases are heterozygous for this deleterious single nucleotide polymorphism within exon 11 of the LMNA gene causing the post-translational modifications to produce Progerin. (wikipedia.org)
Here, we demonstrated that deficiency of Lmna gene in mice caused an obvious shift of locomotor activities to the daytime. (bvsalud.org)
One seemingly small glitch-swapping a "T" in place of a "C" in a gene called lamin A ( LMNA )-leads to the production of a toxic protein now known as progerin. (nih.gov)
In lab studies, we found that base editors, targeted by an appropriate RNA guide, could successfully correct the LMNA gene in those connective tissue cells. (nih.gov)
To ensure the findings in mice would be as relevant as possible to a future treatment for use in humans, we took advantage of a mouse model of progeria developed in my NIH lab in which the mice carry two copies of the human LMNA gene variant that causes the condition. (nih.gov)
Deficiency4
Accelerated aging in articular cartilage by ZMPSTE24 deficiency leads to osteoarthritis with impaired metabolic signaling and epigenetic regulation. (nih.gov)
Accelerated aging induced by deficiency of Zmpste24 protects old mice to develop bleomycin-induced pulmonary fibrosis. (nih.gov)
25. Heterozygosity for Lmna deficiency eliminates the progeria-like phenotypes in Zmpste24-deficient mice. (nih.gov)
These observations suggest that Lmna deficiency causes a change of the habitat from nocturnal to diurnal behaviours. (bvsalud.org)
Mutation3
HGPS is caused by a mutation in LMNA , resulting in a mutated form of lamin A, termed progerin. (silverchair.com)
Here we show that mice with a cardiomyocyte-specific Lmna deletion develop cardiac failure and die within 3-4 weeks after inducing the mutation. (bvsalud.org)
Cardiomyocyte-specific expression of the SUN1 miniprotein prevents cardiomyopathy progression, potentially avoiding the necessity of developing a specific therapeutic tailored to treating each different LMNA cardiomyopathy-inducing mutation of which there are more than 450. (bvsalud.org)
Protein1
Lamin A/C (LMNA) codes for isoforms A and C of the protein lamin, a structural component of the nuclear membrane. (preventiongenetics.com)
Phenotypes1
Accelerated aging phenotypes in the retinal pigment epithelium of Zmpste24-deficient mice. (nih.gov)
Mice1
Intriguingly, high-fat diet feeding extended the short lifespan and ameliorated the abnormalities of the behaviours and the phase of the peripheral clock in the Lmna-deficient mice. (bvsalud.org)
Prelamin2
To define the sequence requirements for ZMPSTE24 cleavage, we mutagenized the eight residues flanking the prelamin A scissile bond (TRSY↓LLGN) to all other 19 amino acids, creating a library of 152 variants. (nih.gov)
37. Modulation of LMNA splicing as a strategy to treat prelamin A diseases. (nih.gov)
Zinc2
Orthologous to human ZMPSTE24 (zinc metallopeptidase STE24). (nih.gov)
The integral membrane zinc metalloprotease ZMPSTE24 is important for human health and longevity. (nih.gov)
Structure1
ZMPSTE24 has a novel structure, with seven transmembrane spans that form a large water-filled membrane chamber whose catalytic site faces the chamber interior. (nih.gov)
Carry1
This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in LMNA . (preventiongenetics.com)
Cells1
On the other hand, molecular oscillation and its phase resetting mechanism were intact in both the Lmna-deficient cells and progeria-mimicking cells. (bvsalud.org)