Are compensatory increases in nuclear PGC1alpha protein primarily associated with subsarcolemmal mitochondrial adaptations in ZDF rats?
In ZDF animals, intramuscular lipids accumulate in the intermyofibrillar region (increased size and number), and this is primarily associated with increased oxidative capacity in subsarcolemmal mitochondria (number, size, density, and oxidation rates). These changes may result from an increased nuclear content of PGC1alpha, as under basal conditions, overexpression of PGC1alpha appears to target subsarcolemmal mitochondria.
Here, we report two novel missense mutations, p.R11C and p.R12C, in CRYAB associated with autosomal recessive congenital nuclear cataracts.