Hyderabad: DNA unit cures gene disorder with espresso

Hyderabad: Scientists of the Centre for DNA Fingerprint and Diagnostics (CDFD) used coffee to treat a person from Bengaluru who was suffering from a genetic disorder caused by mutations (changes) in the DNA.

This subjected the patient, aged 33, to involuntary movements of the body since his childhood. Using the next-generation sequencing (NGS) technology like exome sequencing, where the protein-coding region of genes is coded, scientists identified the mutations in the patient which caused this disorder.

Scientists told him to take a cup of espresso coffee thrice a day.

Explaining the effect of the mutations, Dr Ashwin Dala, head of the diagnostics division at CDFD, said, “The bouts used to occur 10 to 15 times per day. Such features are termed as episodic movement disorders. Alterations in more than 12 genes are known to cause this phenotype.”

Such low-level mosaic mutation is difficult with traditional methods of sequencing. NGS, through which an entire human genome can be sequenced within a single day, made the diagnosis possible.

In June, French scientists experimented on an 11-year-old boy who was suffering from a similar disorder by giving him coffee three times a day as therapy. They found the involuntary movements decreased from 30 bouts per day to 1-2 brief movements.

After prescribing coffee for the patient from Bengaluru, Dr Dala said, “Caffeine acts as an adversary to adenosine. It prevents formation of excess cyclic AMP, which is responsible for the unintentional movements, by inhibiting its synthesis through blocking of adenosine receptors in the brain.”