title: Detection of survival motor neuron protein in buccal cells through electrochemiluminescence-based assay.
abstract: Spinal muscular atrophy (SMA) is a severe autosomal recessive disorder affecting one in every 10,000 live births. The disease is characterized by loss of alpha-motor neurons in the spinal cord that leads to progressive atrophy and weakness of limb and trunk muscles. This neuromuscular disorder results from deletions and/or mutations within the survival motor neuron 1 (SMN1) gene, leading to a pathologically decreased expression of functional full-length SMN protein. Here we report on the investigation to measure SMN protein levels through electrochemiluminescence immunoassay (ECLIA). This simple assay is a highly quantitative method able to measure SMN protein levels in human, mouse, and rat samples throughout a wide working range with low intra- and interassay error. The sensitivity for human SMN is 30 pg/mL and provides a new tool for the set up of high-throughput screening for basic research. Moreover, we describe a novel tool for a noninvasive assessment of SMN in buccal cells derived from healthy donors, SMA carriers, and SMA patients. The availability of a validated quantitative ECLIA should improve the investigation of novel compounds for the treatment of SMA.
authors.affiliation: 1 Institute of Medical Genetics, Medical University of Vienna , Vienna, Austria .
authors.forename: Hannes
authors.initials: H
authors.lastname: Steinkellner
authors.forename: Julia
authors.initials: J
authors.lastname: Etzler
authors.forename: Bernhard M
authors.initials: BM
authors.lastname: Gmeiner
authors.forename: Franco
authors.initials: F
authors.lastname: Laccone
mesh_terms: D000328:Adult; D000818:Animals; D002460:Cell Line; D002648:Child; D055664:Electrochemical Techniques / Q000379:methods*; D005260:Female; D057809:HEK293 Cells; D064368:Healthy Volunteers; D056945:Hep G2 Cells; D057166:High-Throughput Screening Assays; D006801:Humans; D007118:Immunoassay / Q000379:methods*; D049449:Luminescence; D008163:Luminescent Measurements; D008297:Male; D051379:Mice; D008875:Middle Aged; D009061:Mouth Mucosa / Q000166:cytology*; D051381:Rats; D055532:SMN Complex Proteins / Q000032:analysis*
chemical_list: D055532:SMN Complex Proteins