AnatomyDiseasesChemicals and Drugs
GelsolinMicrofilament ProteinsActinsCalcium-Binding ProteinsPhalloidineActin CytoskeletonPhosphatidylinositol 4,5-DiphosphateDestrinAmyloidosis, FamilialActin Depolymerizing FactorsVitamin D-Binding ProteinAmyloidosisCytoskeletonAmyloid Neuropathies
AmyloidosisPlasma gelsolinLattice corneal dystrophyAutonomic neuropathyActinProteinKidneyDomainsCalled hereditary gelsolin amyloidosisAmyloidFinnishATTRProteinsApolipoproteinNeuropathiesMutationsGeneAutosomal dominantAmino acidDiseasesFragmentGeneticSymptomsTypeRoleFunctionResultsMadeConditionsCellPatients
Amyloidosis5
  • Familial Amyloidosis, Finnish Type (FAF), also called hereditary gelsolin amyloidosis and AGel amyloidosis (AGel), is an amyloid condition with a number of associated cutaneous and neurological presentations deriving from the aberrant proteolysis of a mutated form of plasma gelsolin. (wikipedia.org)
  • There are some hereditary forms of amyloidosis which are derived from fibrinogen A, apolipoprotein, gelsolin, and lysozyme affecting the kidney, but these are exceedingly rare. (highwire.org)
  • Hereditary transthyretin (ATTRv) amyloidosis is a rare and autosomal dominant disorder associated with mutations in the transthyretin gene. (bvsalud.org)
  • A third category consists of members of a family in which hereditary amyloidosis occurs and who have developed symptoms that are consistent with that type of amyloidosis. (amyloid.nl)
  • There is a rare hereditary form of beta-2-microglobulin amyloidosis due to a mutation to the relevant gene. (msdmanuals.com)
Plasma gelsolin2
  • Plasma gelsolin is a 755 amino acid, 83 kDa plasma protein involved in the regulation and resolution of inflammation. (wikipedia.org)
  • Plasma gelsolin is cleaved as it passes through the Golgi before being secreted from the cell. (wikipedia.org)
Lattice corneal dystrophy2
  • Many names exist in the scientific literature in reference to this disease including: Familial amyloid neuropathy type IV Familial amyloidotic polyneuropathy (FAP) type IV Lattice corneal dystrophy, gelsolin type Lattice corneal dystrophy type 2 (LCD2) Meretoja's syndrome Wrinkly skin syndrome List of cutaneous conditions Finnish heritage disease Plasma gelsolin Solomon, James P. (wikipedia.org)
  • Mutations that cause lattice corneal dystrophy type II change a single protein building block (amino acid) in the gelsolin protein. (medlineplus.gov)
Autonomic neuropathy2
  • Familial amyloid polyneuropathy, the hereditary sensory autonomic neuropathies, Fabry disease, and the porphyrias are genetic diseases in which autonomic neuropathy is a common feature. (medscape.com)
  • Currently, 5 types of hereditary sensory autonomic neuropathy (HSAN) have been defined (see Table 1). (medscape.com)
Actin1
  • Rarely, a mutation in the gelsolin gene, which produces a protein important in cytoskeletal actin function, may also lead to amyloid deposition in autonomic nerves. (medscape.com)
Protein2
  • This gene provides instructions for making a protein called gelsolin. (medlineplus.gov)
  • The altered gelsolin protein is broken down differently than the normal protein, which results in an abnormal gelsolin protein fragment that is released from the cell. (medlineplus.gov)
Kidney1
  • Alport syndrome (AS) is a hereditary disease that leads to kidney failure and is caused by mutations in the COL4A3, COL4A4, and COL4A5 genes that lead to the absence of collagen α3α4α5 (IV) networks in the mature kidney glomerular basement membrane. (stemcellcharter.org)
Domains2
  • It is made up of six "gelsolin domains," each consisting of a 5-6 strand β-sheet between one long and one short α-helix. (wikipedia.org)
  • Computational analyses of the missense variants indicated a loss of key residue interactions within the beta sheet and the helical and gelsolin domains, respectively. (uic.es)
Called hereditary gelsolin amyloidosis1
  • Familial Amyloidosis, Finnish Type (FAF), also called hereditary gelsolin amyloidosis and AGel amyloidosis (AGel), is an amyloid condition with a number of associated cutaneous and neurological presentations deriving from the aberrant proteolysis of a mutated form of plasma gelsolin. (wikipedia.org)
Amyloid10
  • The novel amyloid fibril protein found in these patients is a degradation fragment of gelsolin, an actin-binding protein. (nih.gov)
  • Many names exist in the scientific literature in reference to this disease including: Familial amyloid neuropathy type IV Familial amyloidotic polyneuropathy (FAP) type IV Lattice corneal dystrophy, gelsolin type Lattice corneal dystrophy type 2 (LCD2) Meretoja's syndrome Wrinkly skin syndrome List of cutaneous conditions Finnish heritage disease Plasma gelsolin Solomon, James P. (wikipedia.org)
  • The diagnosis of hereditary ATTR amyloidosis is established in a proband with characteristic clinical features, amyloid deposits identified on biopsy that bind to anti-TTR antibodies, and identification of a heterozygous pathogenic variant in TTR by molecular genetic testing . (nih.gov)
  • Hereditary amyloidosis is characterized by the deposit of an abnormal protein called amyloid in multiple organs of the body where it should not be, which causes disruption of organ tissue structure and function. (nih.gov)
  • In Hereditary amyloidosis, amyloid deposits most often occur in tissues of the heart, kidneys, and nervous system. (nih.gov)
  • The most common type of Hereditary amyloidosis is transthyretin amyloidosis (ATTR), a condition in which the amyloid deposits are most often made up of the transthyretin protein which is made in the liver. (nih.gov)
  • A rare systemic amyloidosis with characteristics of a triad of ophthalmologic, neurologic and dermatologic findings due to the deposition of gelsolin amyloid fibrils in these tissues. (cdc.gov)
  • Mutations in this gene can lead to the accumulation of gelsolin amyloid in various tissues. (urbanskinhairclinic.com)
  • The inherited amyloid neuropathies are due to mutations of three proteins: transthyretin, apolipoprotein A1, and gelsolin. (elsevierpure.com)
  • To meet the demand of clinicians, our laboratory has introduced routine partial sequencing of the genes responsible for cerebral amyloid angiopathies in the BRI genes (exons 16 and 17 of the BRI gene which code for the ABRI peptide), gelsolin (exons 4 and 5 which code for AGel peptide) and Cystatine-C (exon 2). (cervco.fr)
Finnish4
  • Gelsolin gene mutation--at codon 187--in familial amyloidosis, Finnish: DNA-diagnostic assay. (nih.gov)
  • Finnish type of familial amyloidosis: cosegregation of Asp187----Asn mutation of gelsolin with the disease in three large families. (nih.gov)
  • Finnish hereditary amyloidosis is caused by a single nucleotide substitution in the gelsolin gene. (nih.gov)
  • in the Finnish form (FAF, Familial amyloidosis of the Finnish type), 2 mutations have been reported in Gelsolin (GSN). (cervco.fr)
ATTR9
  • There are 2 main classifications of hereditary amyloidosis diseases: ATTR and Non-TTR. (amyloidosis.org)
  • However, it is further complicated by the fact that there are approximately 136 different genetic variations in ATTR, and at least 60 genetic variations in Non-TTR hereditary amyloidosis diseases. (amyloidosis.org)
  • The majority of hereditary amyloidosis types are TTR-related, and there are many different variations within ATTR. (amyloidosis.org)
  • Most ATTR diseases have a hereditary pattern of organ involvement, approximate age of onset and associated symptoms. (amyloidosis.org)
  • Hereditary transthyretin (ATTR) amyloidosis is characterized by a slowly progressive peripheral sensorimotor and/or autonomic neuropathy as well as non-neuropathic changes of cardiomyopathy, nephropathy, vitreous opacities, and CNS amyloidosis. (nih.gov)
  • TTR tetramer stabilizers, gene -silencing therapies) are first-line therapy for all individuals with hereditary ATTR amyloidosis. (nih.gov)
  • Hereditary ATTR amyloidosis is inherited in an autosomal dominant manner. (nih.gov)
  • Mutations in the TTR gene can lead to hereditary ATTR amyloidosis, while wild-type ATTR amyloidosis (also known as senile systemic amyloidosis) is typically a result of age-related changes in the protein. (urbanskinhairclinic.com)
  • If it is familial (AF), the precursor protein can be an inherited mutant serum protein such as transthyretin, abbreviated ATTR, or proteins such as lysozyme, fibrinogen, gelsolin, or apolipoproteins. (cancertherapyadvisor.com)
Proteins2
  • There are many types of Hereditary amyloidosis associated with different genetic changes and abnormal proteins. (nih.gov)
  • Scientists at Cancer Research UK have concluded that two proteins (CAP-G and Gelsolin) found in high concentrations in pancreatic tumours are normally responsible for cell movements around the body. (canceractive.com)
Apolipoprotein2
Neuropathies1
  • The molecular basis of inherited autonomic neuropathies is better known, including recent identification of the loci and genes of hereditary sensory and autonomic neuropathies types I, III, and IV. (elsevierpure.com)
Mutations2
Gene6
  • We found a mutation (adenine for guanine) at nucleotide 654 of the gelsolin gene in genomic DNA isolated from five FAF patients. (nih.gov)
  • This gene provides instructions for making a protein called gelsolin. (medlineplus.gov)
  • Hereditary amyloidosis is one type of the systemic amyloidosis diseases that are caused by inheriting a gene mutation. (amyloidosis.org)
  • Caused by mutation in the gelsolin gene (GSN). (cdc.gov)
  • There is a rare hereditary form of beta-2-microglobulin amyloidosis due to a mutation to the relevant gene. (msdmanuals.com)
  • However, AF, the hereditary or familial forms, often occur with a family history of cardiomyopathy or neuropathy, and in particular ethnic populations (regions of Portugal, Sweden, and Japan for example) where the mutant gene is endemic. (cancertherapyadvisor.com)
Autosomal dominant2
  • Most types of Hereditary amyloidosis are inherited in an autosomal dominant manner. (nih.gov)
  • Most cases are sporadic but there are a number of rare, hereditary forms with autosomal dominant transmission. (cervco.fr)
Amino acid1
  • Plasma gelsolin is a 755 amino acid, 83 kDa plasma protein involved in the regulation and resolution of inflammation. (wikipedia.org)
Diseases1
  • Corneal dystrophies are rare hereditary corneal diseases that are usually bilateral, symmetric, slowly progressing, and are unrelated to systemic factors [ 1 ]. (ekjo.org)
Fragment1
  • The altered gelsolin protein is broken down differently than the normal protein, which results in an abnormal gelsolin protein fragment that is released from the cell. (medlineplus.gov)
Genetic1
  • Although all the types of the hereditary amyloidosis can cause serious complications, there are some carriers of this genetic mutation that may not show symptoms of the disease at all. (amyloidosis.org)
Symptoms4
  • Each family with a certain hereditary form of amyloidosis has its own pattern of organ involvement, approximate age of onset and associated symptoms. (amyloidosis.org)
  • Typically, families know when they have a hereditary form of amyloidosis because of similar symptoms and causes of illness among blood relatives, so family history is a key indicator. (amyloidosis.org)
  • While symptoms of Hereditary amyloidosis may appear in childhood, most individuals do not experience symptoms until adulthood. (nih.gov)
  • When Do Symptoms of Hereditary amyloidosis Begin? (nih.gov)
Type1
Role1
  • In conclusion, the Cathepcin K, Gelsolin and Bone sialoprotein play an essential role in bone metabolism and increase the level in osteoporosis patients. (jmchemsci.com)
Function1
Results1
  • The results showed that the serum level of CX3CL1, Gelsolin and Cathepcin K increased in female osteoporosis patients and no significant increase was observed in male osteoporosis patients compared with the control group. (jmchemsci.com)
Made1
  • It is made up of six "gelsolin domains," each consisting of a 5-6 strand β-sheet between one long and one short α-helix. (wikipedia.org)
Conditions1
Cell1
  • Plasma gelsolin is cleaved as it passes through the Golgi before being secreted from the cell. (wikipedia.org)
Patients1
  • The aim of our study was to determine the level of CX3CL1, Bone sialoprotein, Gelsolin, Cathepcin K, Vitamin D, Calcium, Phosphorous and Alkaline phosphatase in 100 patients (20 men and 80 women) and 50 as the control group (19 men and 31 women). (jmchemsci.com)