You can see I have a project on ampd1 and I actually have a facebook group of people with this gene defect, and their issues are much more complex than the muscle phenotype.
After exercise, they are known to get high in adenosine systemically, so how does that elevation interact with regulation of other ATP in other places from muscle?
Particularly, it seems that heterozygotes (thought to be carriers but who produce about half the normal level of the protein) seem to have more issues of impaired regulation than the homozygotes.Why would that happen? This common genetic defect is very underdiagnosed because few people with the genetics for it actually have the recognized phenotype but they do share a lot of other issues.
I would hope that by studying this population, that much more could be learned about regulation of ATP since the gene defect seems to require a double hit before those with this deficiency will acquire the recognized phenotype: muscle soreness and fatigue.
Hi Susan, Good to learn about your studies and wish you success. My concern is about the many approaches being separately done, and all aim to understand these conditions. Hence, why not building an international consortium of interested researchers, and all working within the same master plan? Understandings and resources will be facilitated for everybody. Thank you.
How would you define that consortium, Emilio? It is good to hear your thoughts.
An example of where I would love to see this issue studied is multiple sclerosis where losing motor skills can be a big component of the disease. I just did a listing in pubmed [(multiple sclerosis AND (ampd1 or myoadenylate deaminase deficiency) ] and there were no hits. As common as this ampd1 genetic disorder is, especially in a heterozygous state where it is known they do not produce normal amounts of the protein, I am really shocked that no one has looked for this genotype in that disorder. There are 922 articles that come up on this search: multiple sclerosis AND (mitochondrion or mitochondrial) and this deficiency is about making ATP in muscle. I need collaborators to look at this!
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