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Article

Preclinical evaluation of candidate "kill or cure" strategies to treat MFN2-related lipodystrophy.

Molecular medicine (Cambridge, Mass.) - 4 Aug 2025

Luijten Ineke, Weng Xiong, Kibildyte Ula, Buchan Jana, Onishi Ami, Mann Jake, McKay Eleanor, Savage David, Semple Robert K

Abstract excerpt

BACKGROUND: The mitofusin 2 (MFN2) R707W mutation causes debilitating human lipodystrophy featuring lower body adipose loss, upper body adipose hyperplasia, and dyslipidaemic insulin resistance. Mechanical complications include airway compromise due to head and neck adipose overgrowth. This condition, sometimes called Multiple Symmetrical Lipomatosis (MSL), is also seen in sporadic form strongly associated with...

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Identifiers

PMID: 40759924
DOI: 10.1186/s10020-025-01314-2
PMCID: PMC12320274

Genes

MFN2

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Preclinical evaluation of candidate "kill or cure" strategies to treat MFN2-related lipodystrophy.PMID 40759924Read ↗

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