Ravindra Singh has spent years studying a gene that, when missing or mutated, causes spinal muscular atrophy (SMA), a deadly disease that's among the most common genetic disorders in children. His team's latest work will ...
Mar 13, 2024
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Spinal muscular atrophy, or SMA, is the leading genetic cause of infant death. Less than a decade ago, Cold Spring Harbor Laboratory (CSHL) Professor Adrian Krainer showed this brutal disease can be treated by tweaking a ...
Mar 6, 2024
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In neuromuscular diseases, neurons and muscle cells stop communicating properly. Researchers led by Mina Gouti can now model this in 2D in a culture dish. Writing about their findings in Nature Communications, they say the ...
Dec 19, 2023
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Spinal muscular atrophy (SMA) is a devastating pediatric neuromuscular disorder caused by loss-of-function mutations in the SMN1 gene, which prevents the body from producing enough of the survival motor neuron (SMN) protein ...
Dec 7, 2023
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Modulating the activity of a kinase in motor neurons may help mitigate mitochondrial defects and other symptoms of spinal muscular atrophy, offering a new therapeutic avenue for the devastating disease, according to a Northwestern ...
Dec 5, 2023
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A small molecule previously shown to enhance strength in injured or old laboratory mice does so by restoring lost connections between nerves and muscle fibers, Stanford Medicine researchers have found.
Oct 12, 2023
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Diffuse intrinsic pontine glioma (DIPG) is a lethal pediatric brain cancer that often kills within a year of diagnosis. Surgery is almost impossible because of the location of the tumors. Chemotherapy has debilitating side ...
Apr 12, 2023
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Columbia researchers have discovered how a genetic defect leads to spinal muscular atrophy (SMA), a critical piece of information about the disease that neurologists have been seeking for decades.
Mar 22, 2023
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Living organisms have a knack for persisting in the face of challenges. For instance, when genes malfunction, organisms may be able to compensate by activating redundant genes with similar functions, called paralogs.
Feb 21, 2023
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Mutations can be good and bad. Sometimes they help an organism adapt and survive. Other times they are so harmful that an organism can't survive or reproduce. Cold Spring Harbor Laboratory (CSHL) Professor Adam Siepel's team ...
Sep 22, 2022
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Spinal muscular atrophy (SMA) is an incurable autosomal recessive disease caused by a genetic defect in the SMN1 gene which codes SMN, a protein necessary for survival of motor neurons, and resulting in death of neuronal cells in the anterior horn of spinal cord and subsequent system-wide muscle wasting (atrophy).
Spinal muscular atrophy manifests in various degrees of severity which all have in common general muscle wasting and mobility impairment. Other body systems may be affected as well, particularly in early-onset forms. Spinal muscular atrophy is the most common genetic cause of infant death.
Sometimes, the term spinal muscular atrophy is used to encompass other hereditary disorders that involve death of motor neurons in the anterior horn of spinal cord - see spinal muscular atrophies.
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