User:E.coop99/New Sandbox

copied from Small nuclear RNA

snRNPs and human disease
Through the study of small nuclear ribonucleoproteins (snRNPs) and small nucleolar (sno)RNPs we have been able to better understand many important diseases.

Spinal muscular atrophy - Mutations in the survival motor neuron-1 (SMN1) gene result in the degeneration of spinal motor neurons and severe muscle wasting. The SMN protein assembles Sm-class snRNPs, and probably also snoRNPs and other RNPs. Spinal muscular atrophy affects up to 1 in 6,000 people and is the second leading cause of neuromuscular disease, after Duchenne muscular dystrophy.

Dyskeratosis congenita – Mutations in the assembled snRNPs are also found to be a cause of dyskeratosis congenita, a rare syndrome that presents by abnormal changes in the skin, nails and mucous membrane. Some ultimate effects of this disease include bone-marrow failure as well as cancer. This syndrome has been shown to arise from mutations in multiple genes, including dyskerin, telomerase RNA and telomerase reverse transcriptase.

Prader–Willi syndrome – This syndrome affects as many as 1 in 12,000 people and has a presentation of extreme hunger, cognitive and behavioural problems, poor muscle tone and short stature. The syndrome has been linked to the deletion of a region of paternal chromosome 15 that is not expressed on the maternal chromosome. This region includes a brain-specific snRNA that targets the serotonin-2C receptor mRNA.

Medulloblastoma – The U1 snRNA is mutated in a subset of these brain tumors, and leads to altered RNA splicing. The mutations predominantly occur in adult tumors, and are associated with poor prognosis.