Search results
Results from the WOW.Com Content Network
SMN1 is the telomeric copy of the gene encoding the SMN protein; the centromeric copy is termed SMN2. SMN1 and SMN2 are part of a 500 kbp inverted duplication on chromosome 5q13. This duplicated region contains at least four genes and repetitive elements which make it prone to rearrangements and deletions. The repetitiveness and complexity of ...
Survival of motor neuron or survival motor neuron (SMN) is a protein that in humans is encoded by the SMN1 and SMN2 genes. SMN is found in the cytoplasm of all animal cells and also in the nuclear gems. It functions in transcriptional regulation, telomerase regeneration and cellular trafficking. [2]
This is a list of roots, suffixes, and prefixes used in medical terminology, their meanings, and their etymologies. Most of them are combining forms in Neo-Latin and hence international scientific vocabulary. There are a few general rules about how they combine.
The main discussion of these abbreviations in the context of drug prescriptions and other medical prescriptions is at List of abbreviations used in medical prescriptions. Some of these abbreviations are best not used, as marked and explained here.
Spinal muscular atrophy (SMA) is a rare neuromuscular disorder that results in the loss of motor neurons and progressive muscle wasting. [3] [4] [5] It is usually diagnosed in infancy or early childhood and if left untreated it is the most common genetic cause of infant death. [6]
SMA is diagnosed by the deletion of the homozygous SMN1, while the severity is based on the SMN2 gene. Medical screenings, such as scans, should only be used for patients who "are negative for both SMN1 deletion and SMN1 mutation testing." [4]
SMA is a neuromuscular disorder caused by a mutation in the SMN1 gene, which leads to a decrease in SMN protein, a protein necessary for survival of motor neurons. Onasemnogene abeparvovec is a biologic drug consisting of AAV9 virus capsids that contains a SMN1 transgene along with synthetic promoters . [ 5 ]
Defective function of the survival of motor neuron (SMN) protein in snRNP biogenesis, caused by a genetic defect in the SMN1 gene which codes for SMN, may account for the motor neuron pathology observed in the genetic disorder spinal muscular atrophy.