Spinal Muscular Atrophy (SMA)

SMN Gene Transfer Benefits Mice

A research group from the University of Sheffield in the United Kingdom has found that mice with a disease mimicking human spinal muscular atrophy (SMA) benefited significantly from intravenous transfer of the gene for the SMN (survival of motor neurons) protein. The mice lived significantly longer than untreated mice of the same type.

SMA Research: Saving Shortened SMN Protein

A research team at the University of Pennsylvania in Philadelphia has characterized the mechanism responsible for rapid decay of the survival of motor neurons (SMN) protein that is encoded by the human SMN2 gene and which plays a key role in a variety of therapeutic strategies under development for spinal muscular atrophy (SMA)

Gene Therapy Rescues Mice with SMA

Scientists at four U.S. institutions have successfully used gene therapy to treat very young mice with a disease resembling severe spinal muscular atrophy (SMA).  Study results were published online Feb. 28, 2010, in the journal Nature Biotechnology.

SMA Therapeutics: Changing the Code

 A process called trans-splicing has been shown to increase levels of a needed protein in mice with a disease resembling severe human spinal muscular atrophy (SMA), says a research team at the University of Missouri-Columbia, whose findings were published Jan. 6, 2010, in the Journal of Neuroscience.

SMA Research: Strengthening the Junctions

MDA-supported researchers at the University of Ottawa and Ottawa Hospital Research Institute (OHRI) have identified a biological pathway that may prove useful in developing treatments for spinal muscular atrophy (SMA)

Gene Links Rare CMT, SMA Forms

Three teams of researchers in the United States and Europe have identified specific mutations in a chromosome-12 gene for the TRPV4 protein that tie together the origins of type 2C Charcot-Marie-Tooth disease (CMT2C) and two rare forms of spinal muscular atrophy (SMA).

Breaking New Ground

On one of her first days at the University of Missouri, freshman Gabriella Garbero achieved campus-wide notoriety when her father Matt passed out in her dormitory.

He wasn’t impaired -- other than being dehydrated and not having eaten for most of the day, and having diabetes, which he found out about from that experience. The stress of helping his daughter get settled into college life probably also played a part.

SMA Research: Bolstering Backup SMN

Scientists have identified a chemical cousin of the commonly used antibiotic tetracycline that has the potential to be refined and modified into a therapy for spinal muscular atrophy (SMA).

PTK-SMA1 works by correcting an error in a cellular process called RNA splicing, and leads to increased production of a critical protein that is deficient in this disease.

SMA Research: A Helpful Mutation

Scientists have uncovered a variant (mutation) in the SMN2 gene that leads to production of more full-length SMN protein molecules and a milder version of spinal muscular atrophy (SMA). The finding, a naturally occurring point mutation (a single letter change in the DNA code) in this gene, has immediate implications for genetic testing and possible long-term implications for therapy development.

SMA Research: Gene Mutation Improves Disease Course

Scientists have uncovered a variant (mutation) in the SMN2 gene that leads to production of more full-length SMN protein molecules and a milder version of spinal muscular atrophy (SMA). The finding, a naturally occurring point mutation (a single letter change in the DNA code) in this gene, has immediate implications for genetic testing and possible long-term implications for therapy development.

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