The selective vulnerability of motor neurons in amyotrophic lateral sclerosis (ALS) is evident by sparing of a few subpopulations during this fast progressing and debilitating degenerative disease. By studying the gene expression profile of resilient vs. vulnerable motor neuron populations we can gain insight in what biomolecules and pathways may contribute to the resilience and vulnerability. ...

how to cite this article: rashnonejad a, onay h, atik t, atan sahin o, gokben s, tekgul h, ozkinay f. molecular genetic analysis of survival motor neuron gene in 460 turkish cases with suspicious spinal muscular atrophy disease. iran j child neurol. autumn 2016; 10(4):30-35. abstract objective to describe 12 yr experience of molecular genetic diagnosis of spinal muscular atrophy (sma) in 460 ca...

Hereditary canine spinal muscular atrophy (HCSMA) is an autosomal dominant motor neuron disease that is similar in pathology and clinical presentation to various forms of human motor neuron disease. We have tested the hypothesis that the canine survival motor neuron (SMN) gene is responsible for HCSMA by genetic and molecular analysis of a colony of mixed breed dogs, all descended from a single...

Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterized by motor neuron death. ALS can be induced by mutations in the superoxide dismutase 1 gene (SOD1). Evidence for the non-cell-autonomous nature of ALS emerged from the observation that wild-type glial cells extended the survival of SOD1 mutant motor neurons in chimeric mice. To uncover the contribution of astrocytes ...

Spinal muscular atrophy (SMA) is a neurodegenerative disorder primarily affecting motor neurons. This untreatable disease is caused by the absence of a functional survival of motor neuron 1 (SMN1) gene, which leads to a critical reduction in fulllength survival of motor neuron (SMN) protein. The multifunctional SMN protein is important in the biogenesis of small nuclear ribonuclear proteins, pr...

amyotrophic lateral sclerosis (als) is a progressive neurodegenerative disorder of the motor neurons in the spinal cord, brainstem, and motor cortex. ten percent of als cases are familial with both autosomal dominant and recessive modes of inheritance. mutations in the copper/zinc superoxidedismutase-1 (sod-1) gene, the first gene linked with als, result in sod-1 gene accounting for ~ 20% of fa...

in this study organotypic adult spinal cord slices were used to investigate whether caspases could participate in the apoptosis of motor neurons. the thoracic region of spinal cord was sliced using a tissue chopper and cultured in a medium for 6h. morphological and biochemical features of apoptosis were assessed by fluorescent staining and terminal deoxynucleotidyl nick end labeling (tunel) met...

X-linked spinal and bulbar muscular atrophy (SBMA) is characterized by adult-onset muscle weakness and lower motor neuron degeneration. SBMA is caused by CAG-polyglutamine (polyQ) repeat expansions in the androgen receptor (AR) gene. Pathological findings include motor neuron loss, with polyQ-AR accumulation in intranuclear inclusions. SBMA patients exhibit myopathic features, suggesting a role...

Spinal muscular atrophy (SMA), the most common hereditary motor neuron disease in children and young adults is caused by mutations in the telomeric survival motor neuron (SMN1) gene. The human genome, in contrast to mouse, contains a second SMN gene (SMN2) which codes for a gene product which is alternatively spliced at the C-terminus, but also gives rise to low levels of full-length SMN protei...

Human motor neurons derived from embryonic and induced pluripotent stem cells (hESCs and hiPSCs) are a potentially important tool for studying motor neuron survival and pathological cell death. However, their basic survival requirements remain poorly characterized. Here, we sought to optimize a robust survival assay and characterize their response to different neurotrophic factors. First, to in...