SciGenom Labs, specializing in DNA sequencing and molecular testing services for life science and healthcare providers, has embarked on mitochondria sequencing. The process referred to as MitoMAP is a real time Haplotyping to determine pathogenic variants that are responsible for various mitochondrial diseases.

The company thinks that using next generation sequencing (NGS)  is now feasible in a commercial and cost-effective manner.  It can be applied in the clinic for diagnosis of mitochondrial diseases. Further, MitoMAP seen as a  proven  scientific method to establish the maternal ancestry of an individual.

The Kochi-based company has undertaken  real time sequencing of  mitochondria from the cheek cells samples which  are  anonymized and maternal haplotype can be determined in less than 48 hours  using NGS.

Sequencing mitochondria will allow physicians to make informed therapeutic decisions to detect mitochondrial diseases, where cells will not be able to produce energy for the body organs to function. These would include poor growth, loss of muscle coordination,  visual,  hearing problems, learning disabilities, diseases of  heart, liver, kidney,  gastrointestinal disorders, respiratory disorders, neurological problems, autonomic dysfunction and dementia.

 “Sequencing mitochondrial DNA until recently involved isolating DNA from blood, followed by sequencing or  decoding it using the traditional Sanger Sequencing method.  This technique is laborious and can take several months to complete.  With the advent of the NGS technologies, it is now possible to sequence the complete 16kb of mitochondrial genome  known as DNA from multiple individuals in parallel in a matter of days at a much lower cost,” Sam Santhosh, MD & CEO, SciGenom Labs told Pharmabiz.

At the recently concluded NextGen Genomics and Bioinformatics Technologies (NGBT) conference in New  Delhi held between November 14 and 16, 2013, the company  applied NGS to sequence the mitochondrial DNA from individuals obtained from appropriately consented cheek swab sample.  These samples were collected from 80 individuals to  prepare the mitochondrial DNA.  It was then stored as DNA libraries for sequencing. The DNA was analyzed and the  results of the sequencing were presented at  the  conference.

“Based on the variations in the mitochondrial DNA, individuals can be grouped into maternal mitochondrial haplotypes.  Previous studies have shown that in India the predominant haplogroup is M, followed by R and U.  We found a similar trend for maternal lineages, 35% M, 17.5% U and 12.5% R, among the conference participants.  We  found H haplogroup represented at 11% and was consistent with the higher proportion of participants from Europe and North America at the meeting”, explained the SciGenom Labs chief.

Genomics is coming of age.  In the west, genomic sequencing is already being applied in diagnosis and management of disease.  In India, our laboratory is providing cutting edge genomic sequencing and analysis working closely with physicians to enable genomic medicine, he said.

“It is inevitable, the diagnosis and treatment of the  disease will involve genomic information, besides the traditional symptom-based approach.  It will also help reduce misdiagnosis and match patient with appropriate drugs that are likely to work.  Given this, the outlook for genomics industry is very bright, stated the SciGenom chief.