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 congenital – Mutations in the assembled snRNPs are also found to be a cause of dyskeratosis congenital, 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.
Read more about this topic: Small Nuclear RNA
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