Genetic diseases can be caused by mutations or alterations in genes in the cells of our body.
Most of the genetic diseases are not treatable and hence genetic counselling and prevention of these diseases is the only available modality for these families.
Although novel therapies are being developed for some genetic diseases, these they are very expensive and out of reach of common public.
Accurate diagnosis of genetic disease is very important for proper management and prognosis.
The advent of newer diagnostic modalities based on high throughput next generation sequencing has made it possible for diagnosis of a significant number of patients with genetic diseases and these facilities are now readily available at multiple centres throughout the country.
We wish to report a case of diagnosis of one such patient and subsequent therapy using the “humble coffee” which changed his life.
Mr Ramesh (name changed), a 33 year old man presented to the outpatient department of Neurology clinic/Genetics clinic at Mazumdar Shaw Medical Center, Narayana Hrudayalaya Hospitals, Bengaluru where he was seen by Neurologist Dr. Kuldeep Shetty and Medical Geneticist Dr. S.J. Patil.
The man complained of involuntary movements of limbs and face when he was 5 YO. The movements used to happen in bouts of 10 to 15 times per day, lasting for few minutes and were affecting his activities of daily living.
Such features are termed as paroxysmal dyskinesia and alterations in more than 12 genes are known to result in this phenotype.
Since many genes needed to be tested, genetic testing using high throughput sequencing technology called exome sequencing analysis was done on research basis by a team led by Dr. Aswin Dalal, Head, Diagnostics Division at Centre for DNA Finger printing and Diagnostic, Hyderabad to identify genetic basis in this patient.
The sequencing revealed a mosiaic mutation in ADCYS (adenylate cyclise) gene.
Identification of low level mosaic mutations is not possible by traditional methods of sequencing and hence the use of the new technology called exome sequencing helped us to detect this mutation.
We conveyed this information to the patient regarding the cause of his involuntary movements.
This condition is not known to be very well responsive to the currently available medications (like benzodiazepines, betablockers, tetrabenazine, anticholinergics etc).
Some of these drugs were tried with no improvement in our patient.
In June 2019, a group of scientists from France reported an unusual phenomenon wherein both father and daughter affected afflicted by similar involuntary movements, result of a mutation in ADCYS gene.
They was dramatic reduction of movements on consumption of coffee.
In order to check this they recruited an11 year old boy with involuntary movements caused by mutations in ADCY5 gene. He was given high dose of espresso coffee three times a day.
They were surprised to see decrease in involuntary movements from 30 bouts per day to one or two brief movements within few days of “coffee” treatment.
The movements reappeared when the patient was given decaf coffee by the family and disappeared again when caffeine containing coffee was given.
In view of this interesting report we called our patient and treated him on coffee regimen which resulted in 90% reduction of involuntary movements within few days of treatment.
The treatment with a simple food product has brought smiles on his face.
Andhopefully it will help him carry on his daily activities including his profession.
The mechanism of action of caffeine is thought to be related to adenosine.
Thus caffeine prevents the formation of excess cyclic AMP, which is responsible for the involuntary movements, by inhibiting its synthesis by blocking of adenosine receptors in brain.
The aim of this report is to make public aware of various modalities of diagnosis of genetic diseases and their availability at various places in our country.
Further we would also be happy if we are able to find more patients with mutation in this gene and having disability of involuntary movements, so that we could test efficacy of the coffee treatment on a wider scale.
(PIB Note)
(Photo from Wikimedia)