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 N Dengle, Jonathan Picker, Sharyn Lincoln, Laura L. Lackner, Ian A. Glass, Suzanne Hoppins

Research output: Contribution to journalArticle

3 Citations (Scopus)

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.

Original languageEnglish (US)
Pages (from-to)3710-3719
Number of pages10
JournalHuman Molecular Genetics
Volume27
Issue number21
DOIs
StatePublished - Nov 1 2018

Fingerprint

Dynamins
Mitochondrial Dynamics
Proteins
Organelles
Mutation
Membranes

ASJC Scopus subject areas

  • Molecular Biology
  • Genetics
  • Genetics(clinical)

Cite this

Whitley, B. N., Lam, C., Cui, H., Haude, K., Bai, R., Escobar, L., ... Hoppins, S. (2018). Aberrant Drp1-mediated mitochondrial division presents in humans with variable outcomes. Human Molecular Genetics, 27(21), 3710-3719. https://doi.org/10.1093/hmg/ddy287

Aberrant Drp1-mediated mitochondrial division presents in humans with variable outcomes. / Whitley, Brittany N.; Lam, Christina; Cui, Hong; Haude, Katrina; Bai, Renkui; Escobar, Luis; Hamilton, Afifa; Brady, Lauren; Tarnopolsky, Mark A.; Dengle, Lauren N; Picker, Jonathan; Lincoln, Sharyn; Lackner, Laura L.; Glass, Ian A.; Hoppins, Suzanne.

In: Human Molecular Genetics, Vol. 27, No. 21, 01.11.2018, p. 3710-3719.

Research output: Contribution to journalArticle

Whitley, BN, Lam, C, Cui, H, Haude, K, Bai, R, Escobar, L, Hamilton, A, Brady, L, Tarnopolsky, MA, Dengle, LN, Picker, J, Lincoln, S, Lackner, LL, Glass, IA & Hoppins, S 2018, 'Aberrant Drp1-mediated mitochondrial division presents in humans with variable outcomes', Human Molecular Genetics, vol. 27, no. 21, pp. 3710-3719. https://doi.org/10.1093/hmg/ddy287
Whitley, Brittany N. ; Lam, Christina ; Cui, Hong ; Haude, Katrina ; Bai, Renkui ; Escobar, Luis ; Hamilton, Afifa ; Brady, Lauren ; Tarnopolsky, Mark A. ; Dengle, Lauren N ; Picker, Jonathan ; Lincoln, Sharyn ; Lackner, Laura L. ; Glass, Ian A. ; Hoppins, Suzanne. / Aberrant Drp1-mediated mitochondrial division presents in humans with variable outcomes. In: Human Molecular Genetics. 2018 ; Vol. 27, No. 21. pp. 3710-3719.
@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 Dengle, {Lauren N} and Jonathan Picker and Sharyn Lincoln and Lackner, {Laura L.} and Glass, {Ian A.} and Suzanne Hoppins",
year = "2018",
month = "11",
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",

}

TY - JOUR

T1 - Aberrant Drp1-mediated mitochondrial division presents in humans with variable outcomes

AU - Whitley, Brittany N.

AU - Lam, Christina

AU - Cui, Hong

AU - Haude, Katrina

AU - Bai, Renkui

AU - Escobar, Luis

AU - Hamilton, Afifa

AU - Brady, Lauren

AU - Tarnopolsky, Mark A.

AU - Dengle, Lauren N

AU - Picker, Jonathan

AU - Lincoln, Sharyn

AU - Lackner, Laura L.

AU - Glass, Ian A.

AU - Hoppins, Suzanne

PY - 2018/11/1

Y1 - 2018/11/1

N2 - 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.

AB - 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.

UR - http://www.scopus.com/inward/record.url?scp=85055178629&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=85055178629&partnerID=8YFLogxK

U2 - 10.1093/hmg/ddy287

DO - 10.1093/hmg/ddy287

M3 - Article

VL - 27

SP - 3710

EP - 3719

JO - Human Molecular Genetics

JF - Human Molecular Genetics

SN - 0964-6906

IS - 21

ER -