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:
“We cannot think of a legitimate argument why ... whites and blacks need be affected by the knowledge that an aggregate difference in measured intelligence is genetic instead of environmental.... Given a chance, each clan ... will encounter the world with confidence in its own worth and, most importantly, will be unconcerned about comparing its accomplishments line-by-line with those of any other clan. This is wise ethnocentricism.”
—Richard Herrnstein (1930–1994)
“The basis of world peace is the teaching which runs through almost all the great religions of the world. “Love thy neighbor as thyself.” Christ, some of the other great Jewish teachers, Buddha, all preached it. Their followers forgot it. What is the trouble between capital and labor, what is the trouble in many of our communities, but rather a universal forgetting that this teaching is one of our first obligations.”
—Eleanor Roosevelt (1884–1962)