What alteration to the genetic code causes the Niemann-Pick disease? - picks disease more condition_symptoms
I know what happens in the chromosome of all types (). However, I must know what causes the disorder.
Saturday, January 30, 2010
Picks Disease More Condition_symptoms What Alteration To The Genetic Code Causes The Niemann-Pick Disease?
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3 comments:
Takahashi et al. (1992) found that small deletions or nonsense mutations, which cut off nonsense mutations ASM polypeptide, non-catalytic enzyme involved in causing Type A Niemann-Pick disease, whereas mutation wrongly implies that that the catalytic activity of the enzyme defect residual problems nonneuronopathic produce milder phenotype of type B.
Vanier and Millat (2003) indicated that approximately 95% of patients with Niemann-Pick Type C disease, NPC1 mutations in the gene, which is a large membrane glycoprotein primarily to late endosomes coded, and the remainder had mutations in the NPC2 gene, which encodes a small soluble lysosomal protein cholesterol-binding properties.
In 2 patients with NPC2, Naureckiene et al. (2000) identified mutations in the HE1 (NPC2) gene (601015.0001-601015.0002).
In 6 unrelated patients with NPC2, Verot et al. (2007) has identified 5 different mutations in NPC2. The authors reported a total of 15 pathogenic mutations were identified in 22 families from other people. E20X was the moc frequent mutations, representing 34% of mutant alleles.
Scholar from a quick Google, it seems that the NPC1 mouse model of Niemann-result of a mutation in the SSD and 11 of the 13 transmembrane domains truncated pick (ie - a premature stop codon prevents the gene is made).
I do not know the other types of mutations, but mutations are more likely to reduce or cancel a radical change to the structure and function of the protein produced (as opposed to point mutations of an amino acid substitution, in contrast, others)
Good luck.
Please note that Picks disease and Niemann-Pick disase are separate conditions with very different cuases.
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