Transcriptional signatures of synaptic vesicle genes define myotonic dystrophy type I neurodegeneration.

ABSTRACT:

Aim

To delineate the neurogenetic profiles of brain degeneration patterns in myotonic dystrophy type I (DM1).

Methods

In two cohorts of DM1 patients, brain maps of volume loss (VL) and neuropsychological deficits (NDs) were intersected to large-scale transcriptome maps provided by the Allen Human Brain Atlas (AHBA). For validation, neuropathological and RNA analyses were performed in a small series of DM1 brain samples.

Results

Twofold: (1) From a list of preselected hypothesis-driven genes, confirmatory analyses found that three genes play a major role in brain degeneration: dystrophin (DMD), alpha-synuclein (SNCA) and the microtubule-associated protein tau (MAPT). Neuropathological analyses confirmed a highly heterogeneous Tau-pathology in DM1, different to the one

SUBMITTER: Jimenez-Marin A 

PROVIDER: S-EPMC9292638 | biostudies-literature | 2021 Dec

REPOSITORIES: biostudies-literature