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Article

DRP1 mutations associated with EMPF1 encephalopathy alter mitochondrial membrane potential and metabolic programs.

Journal of cell science - 1 Feb 2023

Robertson Gabriella L, Riffle Stellan, Patel Mira, Bodnya Caroline, Marshall Andrea, Beasley Heather K, Garza-Lopez Edgar, Shao Jianqiang, Vue Zer, Hinton Antentor, Stoll Maria S, de Wet Sholto, Theart Rensu P, Chakrabarty Ram Prosad, Loos Ben, Chandel Navdeep S, Mears Jason A, Gama Vivian

Abstract excerpt

Mitochondria and peroxisomes are dynamic signaling organelles that constantly undergo fission, driven by the large GTPase dynamin-related protein 1 (DRP1; encoded by DNM1L). Patients with de novo heterozygous missense mutations in DNM1L present with encephalopathy due to defective mitochondrial and peroxisomal fission (EMPF1) - a devastating neurodevelopmental disease with no effective treatment. To interrogate...

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Identifiers

PMID: 36763487
DOI: 10.1242/jcs.260370
PMCID: PMC10657212

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