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Mutant Genes Related to Autism and Fragile X

Mutant Genes Related to Autism and Fragile X

Cell Press is reporting the identification of mutant genes related to autism and fragile X being linked and doctors say look for advances after recent discoveries .

Mutant Genes Related to Autism and Fragile X

FXS is characterized by social anxiety, including poor eye contact, gaze aversion, prolonged time to commence social interaction, and challenges forming peer relationships

Researches have found that mutant genes associated with fragile x are linked to autism. The genetic syndrome fragile X, is inherited and is recognized as more responsible for contributing to autism than any other single-gene.

Along with cognitive impairment, notable qualities from fragile X  genetic syndrome may include an elongated face, sizeable or protruding ears, flat feet, more substantial testicles, and low muscle tone.

The journal Neuron will feature a publication by Cell Press in the April 26 issue as told by Eurekalert…

It is well established that genetic variation caused by mutation can lead to autism spectrum disorders, and research has repeatedly implicated “de novo” (new) mutations, those that show up for the first time in affected children, as being particularly relevant. Identification of the specific genes associated with autism may lead to much needed advances in the diagnosis and treatment of autism spectrum disorders. The current study, led by Dr. Michael Wigler from Cold Spring Harbor Laboratory, used gene sequencing methods to look at nearly 350 families with healthy children and children on the autistic spectrum, part of the larger Simons Simplex Collection. Specifically, the researchers looked for mutations that were present in the children but not in their parents.

The team found that autism is linked with the types of new mutations that are likely to disrupt the function of a gene. By disrupting one of the pair of healthy genes that we normally inherit, such mutations alter “gene dosage.” There was a 2-fold higher incidence of such mutations in the affected child than in the healthy child, but little to no difference in the overall incidence of much more prevalent types of mutations. The results also showed that children with older parents have more new mutations. This is consistent with other recent reports and perhaps explains why older parents are more likely to have children on the autism spectrum. “More generally, this work and the work preceding it point to the importance of new mutations and gene dosage in so-called complex genetic disorders,” says Dr. Wigler.

Many other new candidate genes were discovered that also revealed some connection between fragile X and autism spectrum disorders.

The Doctors declare the discoveries validated recent suggestions of the link and bring significant advancements in therapy.

This is great for treatment and we applaud the doctors findings. A question arises though and that is “what is causing the genes to mutate in the first place”? Maybe they will be able to find out and we can begin preventing Autism and the related disorders.

Please read more and if there is anyone reading that could comment on that we would love to hear from you.

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