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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.