iPSC generation from PBMCs of a MELAS patient for mitochondrial dysfunction studies

Stem Cell Research 2026 Open access

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Authors: Gautam Sharma, Abhay Srivastava, Cheryl Rockman-Greenberg, Sanjiv Dhingra
DOI: 10.1016/j.scr.2026.103992
Cited by: 1
References: 12

Abstract

Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like episodes (MELAS) is a multisystemic mitochondrial disorder primarily caused by a heteroplasmic point mutation at mitochondrial DNA (mtDNA) position 3243 (m.3243A > G) in the MT-TL1 gene, which encodes mitochondrial tRNA^Leu(UUR). In this study, we report the successful reprogramming of peripheral blood mononuclear cells (PBMCs) from a male patient diagnosed with MELAS into induced pluripotent stem cells (iPSCs). This patient-specific iPSC platform enables investigation into the relationship between heteroplasmy levels and disease manifestation and provides a valuable tool for screening potential therapeutic strategies aimed at mitigating mitochondrial dysfunction in MELAS.

Fields of Study & Subjects

Mitochondrial Function and Pathology Adipose Tissue and Metabolism GDF15 and Related Biomarkers

Publication details

Journal / source
Stem Cell Research
Publisher
Elsevier BV
Volume
94
Pages
103992–103992
Publication date
17 April 2026
Language
EN