Alan McStravick for redOrbit.com Your Universe Online

A recent study, conducted by researchers at the Washington University School of Medicine in St. Louis and their partners at the Joslin Diabetes Center in Boston and the Novartis Institutes for Bio Medical Research, has managed to identify a specific genetic mechanism connected to mutations in the WFS1 gene that affects insulin-secreting beta cells.

It is believed that this discovery will be paramount in increasing the understanding of the rare genetic disorder Wolfram Syndrome (WS) and may also be an important development in the treatment of milder forms of diabetes and related disorders. The full study has been published online in the journal Nature Cell Biology.

Wolfram Syndrome is a rare genetic condition that is caused by mutations in a single gene. This minute mutation, however, has far reaching effects on the body leading to conditions such as diabetes, hearing and vision loss and nerve cell damage that can cause motor difficulties and, ultimately, early death.

WS was first observed in 1938 as a combination of familial juvenile-onset diabetes and optic atrophy. It was understood even then that for most of the patients with this progressive disorder, premature death and widespread atrophic changes throughout the brain were the most probable outcomes. This insulin-requiring type of diabetes typically develops at around age 6.

Examination showed that pancreatic islets were atrophic and the insulin-producing beta cells were selectively absent. WS is believed to account for 1 out of every 150 patients suffering from juvenile or adolescent onset insulin-requiring diabetes mellitus.

The mechanism by which WS works is still unknown, although in 1994 researchers discovered a link between the WFS1 gene and genetic markers on the 4p chromosome.

The reported frequency of those who carry the recessive genetic trait in the U.S. population is approximately 1%. While those that carry the recessive trait do not necessarily show the full range of WS symptoms, they are at a higher risk of developing various forms of mental illness.

Full-fledged WS only occurs in the offspring of two parents who both carry the recessive form of the gene WFS1, and multiple incidences within a genetically predisposed family are not uncommon. There doesnt appear to be any increase or decrease in frequency based on the sex of the offspring.

As we currently understand WS, it is the result of either nuclear or mitochondrial genetic dysfunction. In addition to diabetes mellitus, other typical symptoms include diabetes insipidus, impaired vision and hearing loss. Additional WS complications can include urinary tract and seizure disorders.

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Researchers Link Genetic Mutation To Rare Form Of Diabetes

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