SMN1


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SMN1

A gene on chromosome 5q13.2 that encodes a survival motor neuron protein which is a component of an import snRNP complex composed of KPNB1, RNUT1 and ZNF259. It interacts with OSTF1, LSM10 and LSM11.

Molecular pathology
Defects of SMN1 cause spinal muscular atrophy types 1–4. The severity of disease is mainly determined by the copy number of SMN2, a copy gene which predominantly produces exon 7-skipped transcripts and only a low amount of full-length transcripts that encode for a protein identical to SMN1.
References in periodicals archive ?
SMN1 and SMN2 were simultaneously amplified by using the same pair of primers (sense: 5'-TGTCTTGTGAAACAAAATGCTT-3'; antisense: 5'-AAAAGTCTGCTGGTCTGCCTA-3'), which were located in sequences that were homologous between the two SMN genes.
Fetuses with a homozygous SMN1 deletion were terminated after genetic counselling with ethical and legal support.
The SMN1 and SMN2 sequences were PCR-amplified using human genomic DNA as a template to construct wild type SMN1 and SMN2 minigenes.
Datos de denervation y degeneration Enzima Solo en casos graves se eleva a cientos o creatinfosfokinasa miles de unidades Ultrasonido del Atrofia de este desde el primer mes de vida cuadriceps y del tejido y ausencia marcada del aumento de celularsubcutaneo ecodensidad profundo Electromiografia Patron neurogenico con fibrilaciones y datos de desnervacion muscular, con descargas espontaneas y ritmicas entre 5 y 10 Hertz Estudio cromosomico Ausencia del exon 7 del gen SMN1, en el brazo largo del cromosoma 5 en la region q 11.2-q13.3 La electromiografia muestra fibrilaciones y otros signos de denervacion muscular.
A person who inherits a mutated copy of the SMN1 gene from one parent and a healthy copy from the other parent remains healthy but silently carries the mutated gene.
The function of SMN1 in motor neurons is still unknown.
Credit Suisse analyst Evan Seigerman noted that the FDA announced approval for Novartis' (NVS) Zolgensma for the treatment of Spinal Muscular Atrophy, or SMA, in patients with bi-allelic mutations in the SMN1 gene under 2 years of age.
The product, which is intended to be delivered as a single, one-time infusion, functions by replacing the missing or defective SMN1 gene with a functional copy that makes SMN protein.
RS: Now the diagnoses of most muscular dystrophy types can be made through a blood test DNA which shows whether there are mutations in the responsible gene for example in case of SMA the SMN1 gene, which is responsible for making survival motor neuron (SMN) protein or the Dystrophin gene in DMD.
Approximately 81.2–95.0% of cases of SMA resulted from homozygous deletion of survival of motor neuron 1 ( SMN1 ) and 5.0% were compound heterozygous patients.[sup][1] SMA might manifest not only the dysfunction of pure motor neurons but also abnormalities in neuromuscular junction (NMJ), osteoporotic bone formation, cardiac abnormalities, and vascular defects.[sup][2] These phenomena have been described in severe SMA (Type I, II) patients and in mouse models while data from SMA Type III individuals are not available.
In children, the most common inherited motor neuron disease is spinal muscular atrophy (SMA) due to homozygous disruption of the survival motor neuron 1 (SMN1) gene, with classic phenotypes prompting targeted SMN1 gene testing [3].