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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.
Huntington's disease, which affects about 30,000 Americans, is a fatal, inherited disorder that causes progressive movement, psychological and cognitive problems. If a parent has it, their ...
Scientists are unraveling the mystery of what triggers Huntington’s disease, a devastating and fatal hereditary disorder that strikes in the prime of life, causing nerve cells in parts of the ...
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.
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 ).
Most genetic disorders are diagnosed pre-birth, at birth, or during early childhood however some, such as Huntington's disease, can escape detection until the patient begins exhibiting symptoms well into adulthood. [35] The basic aspects of a genetic disorder rests on the inheritance of genetic material.
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