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

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

Journal: Current opinion in cell biology 2023;81():102174

PMID: 37230036

Full Text on Elsevier Science View on PubMed

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.

Address: Institute of Molecular Medicine, College of Medicine, National Taiwan University, Taipei, Taiwan.; 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: [email protected].

DOI: 10.1016/j.ceb.2023.102174

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MeSH Terms: Humans, Dynamin II, Dynamins, Mutation, GTP Phosphohydrolases, Endocytosis