Transcription profiling of spastic glycine receptor b mutant spinal cord through a time series to study the molecular events underlying phenotypic discordance in glycine receptor defect mice.

ABSTRACT: Summary: We build a model for the molecular and cellular events underlying phenotypic discordance in glycine receptor defects (beta subunit). Some mice progress and die, while their littermates recover and get better, despite the same mutation on an inbred genetic background. We find evidence for glycine neurotransmitter toxicity and loss of glycinergic interneurons early in the disease, but some mice are able to keep things going until they can over-express homomeric alpha1 channels, whereupon they recover. In the mice progressing towards lethality, neurotransmitter toxicity too quickly extends to GABAergic interneurons and motorneurons, and they lose their window of time to upregulate the alpha1 glycine receptor, and they crash and burn. Importantly, human patients with glycine receptor

ORGANISM(S): Mus musculus

DISEASE(S): mild early symptoms

SUBMITTER: Eric Hoffman 

PROVIDER: E-GEOD-1800 | biostudies-arrayexpress |

REPOSITORIES: biostudies-arrayexpress