![]() Additional prospective studies are needed to confirm these findings, demonstrate sensitivity to change with ![]() Additional mining of this rich dataset may yield important insights into relevant SMA-related pathophysiology and biological network associations. No transcript biomarker candidates were identified. No transcripts correlated with MHFMS.In this cross-sectional study, "Bfor SMA" (Biomarkers for SMA, candidate protein and metabolite markers were identified. ![]() Analyte associations were evaluated against a primary measure of disease severity, the Modified Hammersmith Functional Motor Scale (MHFMS and to a number of secondary clinical measures.A total of 200 candidate biomarkers correlate with MHFMS scores: 97 plasma proteins, 59 plasma metabolites (9 amino acids, 10 free fatty acids, 12 lipids and 28 GC/MS metabolites and 44 urine metabolites. Blood and urine specimens from these and 22 age-matched healthy controls were interrogated using proteomic, metabolomic and transcriptomic discovery platforms. ![]() Identifying other novel biomarkers could inform clinical trial design and identify novel therapeutic targets.To identify novel candidate biomarkers associated with disease severity in SMA using unbiased proteomic, metabolomic and transcriptomic approaches.A cross-sectional single evaluation was performed in 108 children with genetically confirmed SMA, aged 2-12 years, manifesting a broad range of disease severity and selected to distinguish factors associated with SMA type and present functional ability independent of age. SMN2 copy number inversely correlates with disease severity. In humans, a nearly identical gene, SMN2, rescues an otherwise lethal phenotype by producing a small amount of full-length SMN protein. ![]() The gene product, SMN protein, functions in RNA biosynthesis in all tissues. Candidate proteins, metabolites and transcripts in the Biomarkers for Spinal Muscular Atrophy (Bfor SMA clinical study.ĭirectory of Open Access Journals (Sweden)įull Text Available Spinal Muscular Atrophy ( SMA is a neurodegenerative motor neuron disorder resulting from a homozygous mutation of the survival of motor neuron 1 (SMN1 gene. ![]()
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