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Huntingtin (Htt) is the protein coded for in humans by the HTT gene, also known as the IT15 ("interesting transcript 15") gene. [5] Mutated HTT is the cause of Huntington's disease (HD), and has been investigated for this role and also for its involvement in long-term memory storage. [6]
Huntington's disease has autosomal dominant inheritance, meaning that an affected individual typically inherits one copy of the gene with an expanded trinucleotide repeat (the mutant allele) from an affected parent. [26] Since the penetrance of the mutation is very high, those who have a mutated copy of the gene will have the disease.
Paternal transmission is almost always responsible for large repeat transmission resulting in the early onset of Huntington's Disease while maternal transmission results in affected individuals experiencing symptom onset mirroring that of their mother., [32] [34] While this transmission of a trinucleotide repeat expansion is regarded to be a ...
These often are translated into polyglutamine-containing proteins that form inclusions and are toxic to neuronal cells. Examples of the disorders caused by this mechanism include Huntington's disease and Huntington disease-like 2, spinal-bulbar muscular atrophy, dentatorubral-pallidoluysian atrophy, and spinocerebellar ataxia 1–3, 6–8, and 17.
In 1978 Housman received a grant from the Hereditary Disease Foundation to search for the gene behind Huntington's disease using genetic markers, and embarked on this work with Jim Gusella, then a postdoc in his lab at MIT. [7] This led to the discovery of the neighborhood of the gene by Gusella's lab at Massachusetts General Hospital in 1983. [8]
This is the case for Huntington's disease, where the trinucleotide repeat encodes a long stretch of glutamine residues. When the repeat is present in an untranslated region, it could affect the expression of the gene in which the repeat is found (ex. fragile X) or many genes through a dominant negative effect (ex. myotonic dystrophy). [citation ...
They found that genes responsible for the expression of IDO1 increased significantly in mouse astrocytes exposed to amyloid beta and tau proteins. They also discovered that a subsequent increase ...
Huntington's disease (HD), a neurodegenerative disorder characterized by loss of striatal neurons, is caused by an expansion of a polyglutamine tract in the HD protein huntingtin. This gene encodes a protein that interacts with huntingtin, with two cytoskeletal proteins ( dynactin and pericentriolar autoantigen protein 1 ), and with a ...
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