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biomarkers in rare disorders the experience with spinal muscular atrophy在罕见疾病生物标志物与脊髓性肌肉萎缩症的经验
Int. J. Mol. Sci. 2011, 12, 24-38; doi:10.3390/ijm OPEN ACCESS International Journal of Molecular Sciences ISSN 1422-0067 /journal/ijms Review Biomarkers in Rare Disorders: The Experience with Spinal Muscular Atrophy Francesco D. Tiziano *, Giovanni Neri and Christina Brahe Institute of Medical Genetics, Catholic University of Sacro Cuore, Roma, Italy; E-Mails: gneri@rm.unicatt.it (G.N.); cbrahe@rm.unicatt.it (C.B.) * Author to whom correspondence should be addressed; E-Mail: fdtiziano@rm.unicatt.it; Tel.: +39-0630154606; Fax: +39-0630157223. Received: 10 November 2010; in revised form: 6 December 2010 / Accepted: 16 December 2010 / Published: 24 December 2010 Abstract: Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder caused by homozygous mutations of the SMN1 gene. Based on clinical severity, three forms of SMA are recognized (type I–III). All patients have at least one (usually 2–4) copies of a highly homologous gene (SMN2) which produces insufficient levels of functional SMN protein, due to alternative splicing of exon7. Recently, evidence has been provided that SMN2 expression can be enhanced by different strategies. The availability of potential candidates to treat SMA has raised a number of issues, including the availability of data on the natural history of the disease, the reliability and sensitivity of outcome measur
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