Publications by authors named "Mary J Wetz"
Article Synopsis
- Spinal Muscular Atrophy (SMA) results from the loss of the SMN1 gene, leading to muscle degeneration and loss of motor function, while the SMN2 gene is a potential target for treatment due to its presence in SMA patients.
- A new intermediate mouse model of SMA has been developed that retains a slightly more functional version of the SMN protein, designated as SMN read-through (SMN(RT)), which shows reduced disease severity and extended survival compared to severe SMA models.
- This model allows for the testing of various therapeutic strategies, both dependent and independent of SMN2, while also validating the efficacy of the SMN(RT) protein in living organisms.
Article Synopsis
- Spinal Muscular Atrophy (SMA) is a severe genetic disorder primarily caused by the loss of the SMN1 gene, leading to problems with motor neuron function and high infant mortality rates.
- Although some SMN protein can be produced by a similar gene (SMN2), low levels of functional SMN particularly affect motor neurons, making gene therapy a promising treatment strategy.
- This study found that delivering a gene therapy vector via an intracerebroventricular route leads to better outcomes in terms of weight gain and survival compared to intravenous delivery in a mouse model of severe SMA.
Spinal muscular atrophy (SMA), an autosomal recessive neuromuscular disorder, is the leading genetic cause of infant mortality. SMA is caused by the homozygous loss of Survival Motor Neuron-1 (SMN1). In humans, a nearly identical copy gene is present, SMN2.
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