Cryptic inclusions UNCover losses driving neurodegeneration

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.

Automated summary

Loss of TDP-43 function can lead to the development of neurodegenerative diseases such as ALS and FTD. Recent studies have also found that this loss of function results in the inclusion of cryptic exons in certain mRNAs, shedding light on new disease mechanisms.