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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.
However, in individuals affected by Huntington's disease (an autosomal dominant genetic disorder), the polymorphic locus contains more than 36 glutamine residues (highest reported repeat length is about 250). [7] Its commonly used name is derived from this disease; previously, the IT15 label was commonly used.
SMBA is the first "CAG / polygutamine" disease, which is a subcategory of repeat disorders. [9] In 1992, for myotonic dystrophy type 1 (DM1), CTG expansion was found in the myotonic dystrophy protein kinase (DMPK) 3' UTR. In 1993, for Huntington's disease (HD), a longer-than-usual CAG repeat with was found in the exon 1 coding sequence. [10]
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.
Autosomal dominant Familial hypercholesterolemia: 1 in 500 [11] Myotonic dystrophy type 1: 1 in 2,100 [12] Neurofibromatosis type I: 1 in 2,500 [13] Hereditary spherocytosis: 1 in 5,000 Marfan syndrome: 1 in 4,000 [14] Huntington's disease: 1 in 15,000 [15] Autosomal recessive Sickle cell anaemia: 1 in 625 [16] Cystic fibrosis: 1 in 2,000 Tay ...
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 ...
Huntington's disease is an autosomal dominant mutation in the HTT gene. The disorder causes degradation in the brain, resulting in uncontrollable movements and behavior. [17] The mutation involves an expansion of repeats in the Huntington protein, causing it to increase in size. Patients who have more than 40 repeats will most likely be affected.
As a result, few dominant embryonically lethal alleles are documented as they would never show up in the population. [8] An example in humans of a dominant lethal allele is Huntington's disease, a rare neurodegenerative disorder that ultimately results in premature death. However, because of its late-onset (i.e., often after reproduction has ...
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