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Cumberland / Re: Huntington's Chorea
« on: Sunday 17 January 10 14:11 GMT (UK) »
To answer Anthony Pearson, what is Huntingtons Chorea...
All humans have the Huntingtin gene (HTT), which codes for the protein huntingtin (HTT). Part of this gene is a repeated section called a trinucleotide repeat, which varies in length between individuals and may change length between generations.
When the length of this repeated section reaches a certain threshold, it produces an altered form of the protein, called mutant huntingtin protein (mHTT). The differing functions of these proteins are the cause of pathological changes which in turn cause the disease symptoms.
The Huntington's disease mutation is genetically dominant, because either of a person's HTT genes being mutated, causes the disease. It is not inherited according to gender, but the length of the repeated section of the gene, and hence its severity, can be influenced by the gender of the affected parent.
There is no cure unless maybe in the distant future the DNA coding from this mutated gene, can be altered. This is where research is at with all mutated genes, the transcription of which, thro' its pathogenesis, results in these conditions.
All humans have the Huntingtin gene (HTT), which codes for the protein huntingtin (HTT). Part of this gene is a repeated section called a trinucleotide repeat, which varies in length between individuals and may change length between generations.
When the length of this repeated section reaches a certain threshold, it produces an altered form of the protein, called mutant huntingtin protein (mHTT). The differing functions of these proteins are the cause of pathological changes which in turn cause the disease symptoms.
The Huntington's disease mutation is genetically dominant, because either of a person's HTT genes being mutated, causes the disease. It is not inherited according to gender, but the length of the repeated section of the gene, and hence its severity, can be influenced by the gender of the affected parent.
There is no cure unless maybe in the distant future the DNA coding from this mutated gene, can be altered. This is where research is at with all mutated genes, the transcription of which, thro' its pathogenesis, results in these conditions.