Effect of Gender on Spinal Muscular Atrophy
Date
2023-05
Authors
Chau, Mi
Major Professor
Singh, Ravindra
Advisor
Committee Member
Journal Title
Journal ISSN
Volume Title
Publisher
Altmetrics
Abstract
Spinal muscular atrophy (SMA) is the leading genetic cause of infant and child mortality. SMA is caused by a mutation that creates low levels of the Survival Motor Neuron (SMN) protein. General manifestations of severe SMA include degeneration of motor neurons and abnormalities of neuromuscular junctions. FDA approved therapeutic treatments for SMA exist, but minimal sex-specific outcomes have been reported. Sex-specific research is critical for the advancement of SMA therapeutics. Failure of inclusion of gender in experiments and analysis of data by sex contributes to the rise of irreproducibility in preclinical biomedical research. This literature review aims to discuss the broad disease spectrum of SMA and the emergence of sex-specific phenotypes.
Series Number
Journal Issue
Is Version Of
Versions
Series
Academic or Administrative Unit
Type
creative component
Comments
Rights Statement
Copyright
2023