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A Mathematical Explanation For Precision Of Trinucleotide Hereditary Diseases
Scientists at the Weizmann Institute have proposed a mechanism which
explains the precision of prognoses for trinucleotide repeat diseases.
The
study, published on November 23 in the journal PLoS Computational Biology,
may lead researchers in the direction of a possible prevention or cure.
Based on the literature on some twenty known trinucleotide repeat diseases
and their knowledge of the mechanisms governing somatic mutation, the team
has proposed a mechanism that explains the precise relations between the
patient's age of onset and the number of repeats in the diseased gene in
the
patient's genome. Using computer simulations and mathematical analysis of
the mechanism the scientists have characterized the way in which the
disease
progresses.
Trinucleotide hereditary diseases are known as "time bomb" diseases, as
people who live with them have a predictable onset of suffering and
eventual death in adulthood. These diseases are caused by an unusual
genetic mutation: A three-letter piece of gene code is repeated over and
over in
one gene. Scientists can predict by how many times the sequence repeats
in a patient's gene both the age at which the disease will appear and how
quickly the disease will progress.
The basic assumption has been that the protein fragment containing the
amino acid (glutamine) encoded in the repeating triplet slowly builds up
in the
cells until eventually reaching toxic levels. This theory, unfortunately,
fails to explain some of the clinical data.
The Weizmann Institute scientists, led by Ehud Shapiro, show that the
answer lies in somatic mutations - changes in the number of DNA repeats
that
build up in our cells throughout our lives. The longer the DNA sequence,
the greater the chance of additional mutation. The scientists realized
that
the genes carrying the disease code might be accumulating more and more
DNA repeats over time, until some critical threshold is crossed.
These findings suggest that a cure for all might be found in a drug or
treatment that slows down the expansion process, if researchers are
successful
in using this new model.
Citation: Kaplan S, Itzkovitz S, Shapiro E (2007) A universal mechanism
ties genotype to phenotype in trinucleotide diseases. PLoS Comput Biol
3(11):
e235. doi:10.1371/journal.pcbi.0030235
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O explicaþie pentru matematica de precizie a Trinucleotide ereditar Boli - A Mathematical Explanation For Precision Of Trinucleotide Hereditary Diseases - articole medicale engleza - startsanatate