Genetic Basis
There are two autosomal recessive forms of this disease, childhood-onset and adult-onset. The gene for myophosphorylase, PYGM (muscle-type glycogen phosphorylase gene), is located on chromosome 11q13. According to the most recent publications, 95 different mutations have been reported. The forms of the mutations may vary between ethnic groups. For example, the Arg49Stop mutation is most common in North America and Europe, the R49X mutation is most common in Dutch patients, and the Y84X mutation is most common among central Europeans.
The exact method of protein disruption has been elucidated in certain mutations. For example, R138W is known to disrupt to pyridoxal phosphate binding site.
Read more about this topic: Glycogen Storage Disease Type V
Famous quotes containing the words genetic and/or basis:
“Man is not merely the sum of his masks. Behind the shifting face of personality is a hard nugget of self, a genetic gift.... The self is malleable but elastic, snapping back to its original shape like a rubber band. Mental illness is no myth, as some have claimed. It is a disturbance in our sense of possession of a stable inner self that survives its personae.”
—Camille Paglia (b. 1947)
“That food has always been, and will continue to be, the basis for one of our greater snobbisms does not explain the fact that the attitude toward the food choice of others is becoming more and more heatedly exclusive until it may well turn into one of those forms of bigotry against which gallant little committees are constantly planning campaigns in the cause of justice and decency.”
—Cornelia Otis Skinner (1901–1979)