Aberrant Drp1-mediated mitochondrial division presents in humans with variable outcomes

Brittany N. Whitley, Christina Lam, Hong Cui, Katrina Haude, Renkui Bai, Luis Escobar, Afifa Hamilton, Lauren Brady, Mark A. Tarnopolsky, Lauren Dengle, Jonathan Picker, Sharyn Lincoln, Laura L. Lackner, Ian A. Glass, Suzanne Hoppins*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

35 Scopus citations


Mitochondrial dynamics, including mitochondrial division, fusion and transport, are integral parts of mitochondrial and cellular function. DNM1L encodes dynamin-related protein 1 (Drp1), a member of the dynamin-related protein family that is required for mitochondrial division. Several de novo mutations in DNM1L are associated with a range of disease states. Here we report the identification of five patients with pathogenic or likely pathogenic variants of DNM1L, including two novel variants. Interestingly, all of the positions identified in these Drp1 variants are fully conserved among all members of the dynamin-related protein family that are involved in membrane division and organelle division events. This work builds upon and expands the clinical spectrum associated with Drp1 variants in patients and their impact on mitochondrial division in model cells.

Original languageEnglish (US)
Pages (from-to)3710-3719
Number of pages10
JournalHuman molecular genetics
Issue number21
StatePublished - Nov 1 2018

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics
  • Molecular Biology


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