May 25, 2001 -- In the process of discovering a function for a common modification of proteins in the cell, researchers have found evidence that suggests that insufficient amounts of folic acid and vitamin B12 in the diet may exacerbate spinal muscular atrophy (SMA), a genetic disease that attacks motor neurons.
The scientists are planning to collaborate with clinicians to explore whether these vitamins might ameliorate the severity of symptoms in some SMA patients.
In a research article published in the May 2001 issue of the journal Molecular Cell, Howard Hughes Medical Institute investigator Gideon Dreyfuss and colleagues at the University of Pennsylvania School of Medicine report new information about how the protein, “survival of motor neurons” (SMN), which is reduced or defective in people with SMA, attaches to other proteins with which it interacts.
“SMN is a sort of master builder or chaperone that helps assemble many large RNA-protein machines (RNPs) in the cell,” said Dreyfuss. “In particular, it appears to help construct complicated molecular machines that are critical for the production of messenger RNA.” Messenger RNA plays an essential role in ensuring that the information contained in DNA is properly translated into functional proteins.
SMA is the most common genetic cause of infant mortality, affecting about one in 6,000 newborns. The disease causes progressive muscle weakness, wasting, or atrophy as motor neurons degenerate. The severity of the disease ranges from milder forms, in which people can live into adulthood, to more severe forms that cause death a few months after birth.