Integrated molecular and clinical profiling of primary mitochondrial oxidative phosphorylation disorders in an Indian cohort: Insights from genetics, neuroimaging, and machine learning

Subhadeep Banerjee

doi:10.1016/j.mito.2026.102150

Integrated molecular and clinical profiling of primary mitochondrial oxidative phosphorylation disorders in an Indian cohort: Insights from genetics, neuroimaging, and machine learning

2026-03-16

0

PRE

AI

S

Subhadeep Banerjee

R

Ritwick Mondal

S

Shramana Deb

G

Gourav Shome

S

Sharanya Chakraborty

C

Chinmay Saha

A

Alak Pandit

G

Gargi Sen

S

Sreela Bhattacharya

P

Purbita Sen

N

Nitai P. Bhattacharya

J

Jayanta Roy

A

Anjan Chowdhury *

J

Julián Benito‐León *

DOI：10.1016/j.mito.2026.102150

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Abstract

En 中文

• First cohort on mitochondrial OXPHOS disorders from Eastern India. • Classical mtDNA mutations identified across MELAS, LHON, and Leigh syndromes. • Machine learning aided diagnostic stratification of mitochondrial syndromes. • Study highlights diagnostic gaps and need for accessible genetic testing.

Keywords:

mitochondrial OXPHOS disorders

mtDNA mutations

machine learning

neuroimaging

genetic testing

Integrated molecular and clinical profiling of primary mitochondrial oxidative phosphorylation disorders in an Indian cohort: Insights from genetics, neuroimaging, and machine learning

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