Bangalore: An Indian scientist at the National Centre for Biological Sciences (NCBS) is part of a team that may have found a possible cure for the most common form of mental retardation and autism.
Researching on mice that have the same genetic mutation that causes the so-called fragile X syndrome (FXS) as this condition is called in humans, Sumantra Chattarji at NCBS and his colleagues at the National Institute of Mental Health and Neuro Sciences (Nimhans), in Bangalore and Massachusetts Institute of Technology, in Cambridge, Massachussetts have discovered path-breaking leads to curing FXS. The condition currently has no treatment and its symptoms include mental retardation, epilepsy and abnormal body growth.
In a paper published in the 20 December issue of Neuron, one of the world’s best known neurosciences journal, Chattarji and his colleagues show that by altering a single gene, a wide range of FXS abnormalities can be corrected.
“It’s a dramatic further support of the fact that FXS.... can be treated. It makes us more hopeful that not only behaviour but even cognitive impairment can be corrected,” said Randi J. Hagerman, an expert on FXS and medical director at the MIND Institute at University of California, Davis. She added that the finding has the potential to treat many sub-types of autism.
One theory regarding FXS has it that many of the symptoms associated with it are caused by the unchecked activation of a chemical (called mGluR5) found in the nervous system. By reducing the activation of this chemical, this theory argues, some of the symptoms can be controlled. Chattarji’s experiments with mice have essentially proven this theory.
Chattarji has been an active contributor to the global quest for FXS cure, led by Fragile X Research Foundation (FRAXA) in Newburyport, Massachussetts. He has also been collaborating with clinicians in India and the US to get a screening programme off the ground in India. “Before we get India on the global FXS drug trial network, we need to have an identified population. We have no idea what’s the incidence of this disease in India,” he said.
Hagerman, who last week started a “blood spot screening technique” (to diagnose FXS) at NCBS and has visually inspected many clinics here, said that India has much higher incidence of FXS than estimated. “I toured many clinics and found many children with FXS who had not been diagnosed,” she added.
Once the technique is standardized, researchers will begin screening children at the Madhuram Narayanan Centre for Exceptional Children in Chennai, which, Chattarji, said is one of the few centres in the country focusing on autism and other related disorders. Centres such as Nimahans and St Johns Hospital in Bangalore and Christian Medical College in Vellore will join the programme after this, he added.
Hagerman said that the new screening tests would be cheaper than the currently sporadically available diagnostics.