The First complete Zoroastrian-Parsi Mitochondria Reference Genome: Implications of mitochondrial signatures in an endogamous, non-smoking population






Press Release 15 June 2020



Avesthagen releases “The 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 con-ditions



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 biobank of Zoroastrian Parsi blood samples and extensive patient data from over 4,500 members of this 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 gen-eration, awarded Avesthagen “Cancer risk in smoking subjects assessed by next generation se-quencing 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 indi-vidual 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 and25 sub-haplogroupsandalargelyPersianorigin fortheZoroastrian-Parsicommunity.Individual reference genomes for each major haplogroup were used to assemble the Zoroastrian-Parsi Mito-chondrial 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, endoga-mous population genetics, social behavior and customs that express in genetic signatures of well-ness 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 settingitfree toworkinthereal,everydayworld”.Both,AvesthagenLimitedandTheAvestagenome Project® was built on the bedrock of understanding and extrapolating diversity, from environment to humancommunities; The Parsi-Zoroastriancommunityrenownedforitsphilanthropywill becon-tributing through The Avestagenome Project® to global health through a deeper understanding of genetics, disease and environment.

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