Cryptic inclusions UNCover losses driving neurodegeneration

Adekunle T Bademosi; Adam K Walker

doi:10.1016/j.tig.2022.06.004

Cryptic inclusions UNCover losses driving neurodegeneration

Trends Genet. 2022 Sep;38(9):889-891. doi: 10.1016/j.tig.2022.06.004. Epub 2022 Jun 27.

Authors

Adekunle T Bademosi¹, Adam K Walker²

Affiliations

¹ Neurodegeneration Pathobiology Laboratory, Queensland Brain Institute, The University of Queensland, St Lucia, QLD, 4072, Australia.
² Neurodegeneration Pathobiology Laboratory, Queensland Brain Institute, The University of Queensland, St Lucia, QLD, 4072, Australia. Electronic address: adam.walker@uq.edu.au.

PMID: 35773026
DOI: 10.1016/j.tig.2022.06.004

Abstract

Pathology formed by the protein TDP-43 (TAR DNA binding protein 43) is the hallmark of several neurodegenerative diseases. Recent studies by Ma et al. and Brown et al. reveal that loss of TDP-43 function causes inclusion of cryptic exons in specific mRNAs, including the synaptic gene UNC13A, a known genetic risk factor for amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). These findings suggest new disease mechanisms.

Keywords: TDP-43; amyotrophic lateral sclerosis; cryptic exons; frontotemporal dementia; motor neuron; splicing.

Publication types

Research Support, Non-U.S. Gov't
Comment

MeSH terms

Amyotrophic Lateral Sclerosis* / genetics
Amyotrophic Lateral Sclerosis* / pathology
Exons
Frontotemporal Dementia* / genetics
Frontotemporal Dementia* / pathology
Humans
Neurodegenerative Diseases* / genetics
RNA, Messenger / metabolism

Substances

RNA, Messenger