Dynamins in human diseases: differential requirement of dynamin activity in distinct tissues

Jessica Laiman; Shan-Shan Lin; Ya-Wen Liu

doi:10.1016/j.ceb.2023.102174

Dynamins in human diseases: differential requirement of dynamin activity in distinct tissues

Curr Opin Cell Biol. 2023 Apr:81:102174. doi: 10.1016/j.ceb.2023.102174. Epub 2023 May 23.

Authors

Jessica Laiman¹, Shan-Shan Lin¹, Ya-Wen Liu²

Affiliations

¹ Institute of Molecular Medicine, College of Medicine, National Taiwan University, Taipei, Taiwan.
² Institute of Molecular Medicine, College of Medicine, National Taiwan University, Taipei, Taiwan; Center of Precision Medicine, College of Medicine, National Taiwan University, Taipei, Taiwan. Electronic address: yawenliu@ntu.edu.tw.

PMID: 37230036
DOI: 10.1016/j.ceb.2023.102174

Abstract

Dynamin, a 100-kDa GTPase, is one of the most-characterized membrane fission machineries catalyzing vesicle release from plasma membrane during endocytosis. The human genome encodes three dynamins: DNM1, DNM2 and DNM3, with high amino acid similarity but distinct expression patterns. Ever since the discoveries of dynamin mutations associated with human diseases in 2005, dynamin has become a paradigm for studying pathogenic mechanisms of mutant proteins from the aspects of structural biology, cell biology, model organisms as well as therapeutic strategy development. Here, we review the diseases and pathogenic mechanisms caused by mutations of DNM1 and DNM2, focusing on the activity requirement and regulation of dynamins in different tissues.

Keywords: Cancer; Centronuclear myopathy; Charcot-marie-tooth neuropathy; Developmental epilepsy encephalopathy; Dynamin isoforms.

Publication types

Review

MeSH terms

Dynamin II* / genetics
Dynamin II* / metabolism
Dynamins* / genetics
Endocytosis
GTP Phosphohydrolases
Humans
Mutation

Substances

Dynamin II
Dynamins
GTP Phosphohydrolases