Den molekylaergenetiske baggrund for spinal muskelatrofi. Diagnostik, prognose og fremtidig behandling
Engelsk titel: The molecular-genetic background of spinal muscular atrophy. Diagnosis, prognosis and future treatments
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Författare:
Schwartz M
Email: schwartz@rh.dk
Språk: Dan
Antal referenser: 38
Dokumenttyp:
Översikt
UI-nummer: 05021117
Sammanfattning
Proximal spinal muscular atrophy (SMA) is one of the most common and severe hereditary diseases. SMA is caused by a deficiency of the SMN1 gene. Cloning and characterization of SMN1 and its homologue SMN2 have improved our understanding of the molecular pathophysiology of SMA. Both genes encode the same protein, but the difference of a single base pair disrupts the splicing of pre-mRNA so that 90% of mature SMN2-mRNA transcripts do not contain exon 7. The corresponding SMN2 protein is unstable and dysfunctional. Compounds such as phenylbutyrate and valproic acid may have a positive effect on the in vivo splicing of SMN2 in SMA.