Not exact matches
Genetic variation can take the
form of common base changes (polymorphisms) that alter gene function or rare base changes (
mutations) that often have highly deleterious
effects.
When compared to the enhanced alpha - synuclein production in the familial
form of the disease, the modest
effect created by the A to G
mutation would be sufficient over a lifetime to increase the risk
of PD, according to Soldner.
The researchers considered two possible explanations: Disease suppression might be the result
of one or two additional substitutions on the same gene that buffer the harmful
effect of the
mutation; or suppression may be caused by numerous small substitutions throughout the genome that
form an aggregate «shield.»
Ethionamide in particular is activated by the enzyme EthA, but some resistant
forms of tuberculosis have developed
mutations in the ethA gene, sparing them from the toxic
effects of the transformed ethionamide.
Scientists at the University
of Dundee have identified the
effects of a
mutation that gives rise to a
form of intellectual disability.