Avesthagen Releases First Complete Zoroastrian-Parsi Mitochondria Reference Genome: ‘Implications Of Mitochondrial Signatures In An Endogamous, Non-Smoking Population’

– The study unravels mitochondrial signatures linked to persian origin, longevity and associated health  conditions –

Avesthagen Limited, with support from the Foundation for a Smoke Free World, New York, USA, is developing a systems biology-based approach for the early predictive diagnosis of tobacco related cancers such as lung, head and neck, esophagus, stomach, colon, prostate and bladder cancers to achieve cessation of smoking. Since 2008, The Avestagenome Project® has been collecting a bio-bank of Zoroastrian Parsi blood samples and extensive patient data from over 4,500 members of the community.

Recognizing the importance of the Parsi cohort and the unique system’s approach to research, the US-based, ‘Foundation for a Smoke-Free World’, whose mission is to end smoking within this generation, awarded Avesthagen – ‘Cancer risk in smoking subjects assessed by next generation sequencing profile of circulating free DNA and RNA’ – to prioritize research into lung and tobacco-related cancers.

In order to gain a clearer understanding of the historically recorded migration of the Zoroastrian-Parsis, decipher their phylogenetic relationships and understand disease association to their individual mitochondrial genomes, Avesthagen generated the first complete de novo Zoroastrian-Parsi Mitochondrial Reference Genome, AGENOME-ZPMS-HV2a-1. Phylogenetic analysis of additional 100 Parsi mitochondrial genome sequences, showed their distribution into 7 major haplogroups and 25 sub-haplo groups and a largely Persian origin for the Zoroastrian-Parsi community. Individual reference genomes for each major haplo group were used to assemble the Zoroastrian-Parsi Mitochondrial Consensus Genome (AGENOME-ZPMCG V1.0) for the first time in the world.

The study identified 420 mitochondrial variants in the Zoroastrian-Parsi genomes. Bioinformatic analysis of these variants showed a presence of longevity as a trait and associated conditions like cancers such as colon, prostate; Neurodegenerative conditions like Parkinsons; rare diseases like Lebers Hereditary Optic Neuropathy and Asthenozoospermia – a fertility disorder. Furthermore, the study uncovered 12 unique variants, previously unreported for other populations which are under further investigation.

The research, in specific, found a lack of association with lung cancers and low frequency of DNA mutational signatures associated with Tobacco smoking carcinogen induced cancers in the Parsi community, attesting to unique non-smoking social practices practiced in the community, whose origins go back a millennia. The research work now released on bioRxiv converges ancient history, human migration, endogamous population genetics, social behavior and customs that express in genetic signatures of wellness and health. 

Dr. Villoo Morawala-Patell, Founder and CMD, Avesthagen Limited and The Avestagenome Project®, says, “We believe in bringing science to life by drawing it out of the confines of the laboratory and setting it free to work in the real, everyday world.” Both – Avesthagen Ltd. and The Avestagenome Project® – were built on the bedrock of understanding and extrapolating diversity, from environment to human communities. The Parsi-Zoroastrian community, renowned for its philanthropy, will be contributing through The Avestagenome Project® to global health, through a deeper understanding of genetics, disease and environment.

Established in 1998, Avesthagen Ltd. is a global systems biology innovation company, uniquely positioned to help solve some of the world’s biggest health challenges. Since its inception, Avesthagen has introduced new products and patent applications every year, serving the life science, food and pharmaceutical markets. Avesthagen continues to build on this heritage by partnering the Foundation for a Smoke-Free World to tackle unprecedented health, wellness and other challenges facing our world today. To learn more about Avesthagen and its research project, log on to: www.avesthagen.com. 

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