Coffee is not just a hot beverage that reduces the risk of heart diseases, but scientists at the Centre for DNA Fingerprinting and Diagnostics have proved that it can help heal people with genetic disorders.
Using the next-generation sequencing technology, the researchers have helped a 33-year-old patient from Bengaluru to overcome a genetic disorder, which he was suffering from since his childhood. Ramesh (name changed) was suffering from a genetic disorder where there were involuntary movements of limbs and face for the last five years, said Ashwin Dalal of Diagnostics Division.
“We identified the genetic basis in a patient that caused this disorder named mosaic mutation and used coffee as therapy for it,” he said. Sharing details about their research, Dr. Dalal said the patient had involuntary movements in bouts of 10 to 15 times per day, lasting for a few minutes. The disorder was affecting his life and he was unable to work.
“Such features are termed paroxysmal dyskinesia, and alterations in more than 12 genes are known to result in this phenotype. This sequencing revealed a mosaic mutation in ADCY5 (adenylate cyclase) gene,” Dr. Dalal said. After studying a report published by a group of scientists from France about a family with a similar disorder, the team gave him high doses of coffee three times a day (100 mg each time). “We were surprised to see that his involuntary movement decreased,” he said. “The action of caffeine is through its property of being an antagonist of adenosine,” Dr. Dalal said. Thus, caffeine prevents the formation of excess cyclic AMP, which is responsible for the involuntary movements, by inhibiting its synthesis through blocking of adenosine receptors in the brain, he said.
