Indo-US team comes up with cure for brain disorder

A cure for a devastating neurological disorder, affecting thousands of Indians, is in sight, thanks to a breakthrough by a group of Indo-US researchers.

Known as ataxia, it is one of the largest group of heritable neurological disorders, affecting nearly 0.1% of the 127 crore Indian population.

Those who have the disease can’t walk straight, and experience imbalance with every step. They also feel tremors in their hand while picking up an object, and are unable to talk without slurring.

In what may alleviate the lifelong suffering of these patients in future, researchers at the University of Wisconsin, Madison, along with their colleagues at the Institute of Genomics and Integrative Biology and All India Institute of Medical Sciences, both in Delhi, and Novartis Institute for Biomedical Research in Massachusetts have now come up with a potential medicine for this disorder that has no cure.

The drug development followed a breakthrough in understanding the genetic routes of the disease.

While the discovery relates to a particular type of ataxia, known as Friedrich’s ataxia, that affects the younger generation, it opens up a window to scour for a cure for all other ataxia, as well as other neuro-degenerative diseases like Fragile X syndrome.

“Novartis showed interest to take our molecule to the clinical trial phase,” said Aseem Ansari, a professor at the University of Wisconsin, who led the team.

Friedrich’s ataxia, like at least 40 other genetic diseases, is caused by stretches of repetitive DNA sequences that blocksformation of the proteins to run the cell.

The novel molecular treatment can aid the cellular machinery to overcome the blockade.

“Ataxia has no treatment at the moment. Only in 5 to 10% cases, physiotherapy helps to an extent. But it is a progressive disorder. Even with treatment, people become wheelchair bound in 7 to 10 years.

“In Friedrich’s ataxia cases, nearly 30 to 40% people develop heart complications and 5 to 20% diabetes,” Mohammed Faruq, one of the team members at IGIB, one of the CSIR laboratories, told DH.

While most of the ataxia has an adult onset, Friedrich’s occurs in children and teenagers in the age group of 10 to 20 years.

For several years, Faruq and his collaborators from AIIMS screened the residents of a village in Aurangabad district of Maharashtra, with a very high prevalence of ataxia.

While the reason for such a high prevalence remains unknown, the scientists now plan to launch an intervention programme in the village to check if a combination of therapy can improve the quality of life for the villagers.

The findings have been published in the December 1 issue of the journal Science.