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Begins unprecedented in scale study of genetic mutations

Begins unprecedented in scale study of genetic mutations

Begins unprecedented in scale study of genetic mutations

Australian scientists are conducting the worlds first large-scale study of the mutated gene that causes the syndrome fragile X chromosome, which is usually associated with the development of autism and mental retardation, according ABC.net.au.

People suffering from the syndrome Fragile X-chromosome, have been specifically drawn to a study conducted by Professor Kim Cornish School of Psychology and Psychiatry, Monash University. The uniqueness of research is that the scientists decided to investigate all the carriers of the gene residing in Australia.

Known: all people have a gene on the X chromosome. Problematic gene in question, called FMR1. In some people, this gene is slightly expanded. Then they become carriers of the gene fragile X chromosome, although they can about it and do not know. However, if the gene is passed on to children, it can cause abnormalities.

Example, men who are carriers of FMR1, in the future may develop neurological abnormalities, called syndrome FXTAS. Usually it makes itself felt after 60 years and is characterized by tremor and worsening cognitive dysfunction.

The ultimate goal of the research – to understand what are the early symptoms of the disorder, occurring in 30-40 years. In female carriers of the gene situation is somewhat different. They have a higher risk of early menopause and ovarian failure in 20-30 years.