Mutant Gene Found In Intellectual Disability Link

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Intellectual disability is frequently caused by mutations in a particular group of genes. This has been determined by scientists working in conjunction with the University of Montreal. At the research centre hospitalier universitaire Saint Justine they have managed to isolate the specific gene for the first time that plays this role.

Between one and two percent of children around the world are affected in this way.

Whilst it was known that this could have been attributed to genetic reasons, this is the first time that we now know which gene.

Rapid Transfer Inhibited

Senior author of the study Dr. Jacques Michaud said in relation to the study, “The group of genes we identified all play important roles in nerve synapses, the structures that allow brain cells to rapidly transfer information. These findings indicate that, in this case, intellectual disability occurs because there is a disruption in nerve cell communication.”

No Association

Whilst many disabilities intellectual in nature have a clear association with physical abnormality that show there has been a major genetic abnormality, in others there is no association with physical traits. For the study the subjects selected were non-syndromic.

DNA Analysis

Jacques and his colleagues who work on the Synapse to Disease Project performed analysis of DNA from the subjects in order to identify non inherited mutations, i.e. ones that were newly formed. They are coined as novo mutations. Of 95 patients, 10 were found to have these genes. Under study it was found that these genes play a part in disrupting the nerve cell communication. On this basis it was determined that the at least two thirds of those mutations were the exact disorder cause.

Important Role

A colleague of Jacques and a co author of this study one Guy Rouleau believes, “This finding aligns with our previous work that shows that de novo mutations play important roles in disorders such as autism and schizophrenia.” In effect the study found that a great deal of intellectual disabilities are not hereditary, and will result in the betterment of diagnostics for all.

Permanent

When a gene mutates, it does so permanently, and has a consequent change on the individuals’ DNA sequence. A large segment of the chromosome can be changed by these novo mutations, or indeed a smaller element of the chromosome changed, with varying negative results. It may be that the novo gene mutation only affects one specific block of the DNA with its effects. These mutations can occur naturally as a result of inheritance of genes or they can occur as a result of factors in the individuals’ environment, acquired during the person’s lifetime.

Inherited

If inherited then the mutant potential is within the individual for their life and is currently irreversible. It is possible too those mutations can occur after the fertilisation of the egg itself (de novo) mutation. The causes of some of these mutations are still under investigation, but likely causes are ultra-violet radiation or indeed a mistake by the cell growth capability of the body itself, when it makes an error  making a copy for cell multiplication.

Unusual

Whilst these mutations do occur and have a statistical bearing in society they are still quite rare. For those genetic mutations and changes that occur most often in society (at least 1%) they are known as polymorphisms. Many of these polymorphisms are of little danger to the public doing nothing more than giving a different colour of eyes or hair or blood type. So too these polymorphisms can be responsible for physical and mental malaise, putting the beholder at heightened risk of developing and suffering from a wide range of different disorders.

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