Despite its name, minor spliceosome alterations are often involved in human disease origin. Work by Reber et al (2016) in this issue of The EMBO Journal now demonstrates a connection between minor spliceosome components and FUS/TLS, one of the major proteins aggregating in the brain of patients affected by amyotrophic lateral sclerosis (ALS). This finding has important implications as it extends the spectrum of diseases where minor spliceosome plays a role. It may also represent a new opportunity for specific therapeutic targets.
See also: S Reber et al
An ancient and famous Latin saying used to be “ubi major minor cessat”, loosely translated as “when there is the major, the minor is neglected”. However, a very different story is described by Reber et al (2016) as they for the first time find the ALS‐linked RNA‐binding protein, FUS/TLS, to act via the so‐called minor spliceosome.
Cellular control of RNA metabolism together with autophagic and proteasome pathways represents two major research fields in current neurodegenerative research. The reason is that many genes causative of ALS/FTD spectrum disorders have been found to encode proteins that regulate various aspects of RNA processing (splicing, stability, transport, translation) or express important components of the autophagic and lysosomal machinery (Hardy & Rogaeva, 2014).
With regard to RNA processing, splicing represents an essential gene regulatory mechanism for all eukaryotes. The purpose of …
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