Muscles

Mitochondrial Dysfunction

If I can jump in on the 'mitochondrial dysfunction' bandwagon - I think there is evidence of mitochondrial dysfunction in the mouse model of PWS - which (unfortunately) is not published yet. It is mentioned in the (publicly available) 'lay abstract' from Rob Nicholls project on the metabolic basis of PWS: "....using a mouse model of PWS we have now identified a fetal defect in the pancreas, the organ that produces insulin and other hormones that regulate key energy sources in the body. Similarly, using our PWS mouse model, we have now identified a specific abnormality in the mitochondria, the powerhouse of cells, and that could underlie most or all of the clinical features of PWS. For example, deficient mitochondrial function could explain the hypotonia (poor muscle tone), endocrine dysfunction, and energy metabolism defects that lead to the opposite neonatal failure to thrive and childhood/adult obesity clinical consequences...." http://www.fpwr.org/research/grant/2005/2 This the same mouse model that showed the insulin and glucagon defects.

I agree that even when muscle biopsies are done, they are rarely evaluated for mitochondrial function, so this could easily be missed.