@article{8e5ef8bbe33a48e5af029beaa72fa531,
title = "Aberrant Drp1-mediated mitochondrial division presents in humans with variable outcomes",
abstract = "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.",
author = "Whitley, {Brittany N.} and Christina Lam and Hong Cui and Katrina Haude and Renkui Bai and Luis Escobar and Afifa Hamilton and Lauren Brady and Tarnopolsky, {Mark A.} and Lauren Dengle and Jonathan Picker and Sharyn Lincoln and Lackner, {Laura L.} and Glass, {Ian A.} and Suzanne Hoppins",
note = "Funding Information: National Institutes of Health (National Institute of General Medical Science (NIGMS) grant R01GM118509 to S.H.); National Science Foundation Graduate Research Fellowship Program (division of graduate education (DGE) 1256082 to B.W.). Any opinions, findings, and conclusions or recommendations expressed in this material are those of the author(s) and do not necessarily reflect the views of the National Science Foundation. Dr Tarnopolsky would like to acknowledge the donation of Warren Lammert, Kathy Corkins and Dan Wright for support of the Neuromuscular and Neurometabolic Clinic and mitochondrial research. Funding Information: We would like to thank the patients and families for permission to publish this work. We thank Marijn Ford for critical discussion of the manuscript. We thank Richard Youle for sharing the Drp1 null cells. National Institutes of Health (National Institute of General Medical Science (NIGMS) grant R01GM118509 to S.H.); National Science Foundation Graduate Research Fellowship Program (division of graduate education (DGE) 1256082 to B.W.). Any opinions, findings, and conclusions or recommendations expressed in this material are those of the author(s) and do not necessarily reflect the views of the National Science Foundation. Dr Tarnopolsky would like to acknowledge the donation of Warren Lammert, Kathy Corkins and Dan Wright for support of the Neuromuscular and Neurometabolic Clinic and mitochondrial research. Publisher Copyright: {\textcopyright} The Author(s) 2018. Published by Oxford University Press. All rights reserved.",
year = "2018",
month = nov,
day = "1",
doi = "10.1093/hmg/ddy287",
language = "English (US)",
volume = "27",
pages = "3710--3719",
journal = "Human molecular genetics",
issn = "0964-6906",
publisher = "Oxford University Press",
number = "21",
}