Choroid plexus mis-splicing and altered cerebrospinal fluid composition in myotonic dystrophy type 1.

ABSTRACT: Myotonic dystrophy type 1 is a dominantly inherited multisystemic disease caused by CTG tandem repeat expansions in the DMPK 3' untranslated region. These expanded repeats are transcribed and produce toxic CUG RNAs that sequester and inhibit activities of the MBNL family of developmental RNA processing factors. Although myotonic dystrophy is classified as a muscular dystrophy, the brain is also severely affected by an unusual cohort of symptoms, including hypersomnia, executive dysfunction, as well as early onsets of tau/MAPT pathology and cerebral atrophy. To address the molecular and cellular events that lead to these pathological outcomes, we recently generated a mouse Dmpk CTG expansion knock-in model and identified choroid plexus epithelial cells as particularly affected by the expres

SUBMITTER: Nutter CA 

PROVIDER: S-EPMC10545633 | biostudies-literature | 2023 Oct

REPOSITORIES: biostudies-literature