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Amyotrophic Lateral Sclerosis (Als) And Spinal Muscular Atrophy (Sma): A Genetic Linkage?, Michael Groden
Amyotrophic Lateral Sclerosis (Als) And Spinal Muscular Atrophy (Sma): A Genetic Linkage?, Michael Groden
The Science Journal of the Lander College of Arts and Sciences
Neurodegenerative motor neuron disorders (MNDs) have devastating effects. Spinal Muscular Atrophy (SMA), for example, is a debilitating and sometimes lethal disease in children. SMA is monogenic, autosomal recessively inherited disorder caused by a loss-of-function mutation of surviving motor neuron 1 (SMN1). SMN2 is an identical copy of this gene and produces abbreviated transcripts without exon 7 though some full transcripts are produced that ameliorate the disease. Previous clinical trials for this disease have not produced consistent results. However, in a recent cross-sectional study, biomarkers for SMA (BforSMA), protein candidates and metabolite markers were identified (Finkel et al., 2012). These markers …