The peroxisome proliferator-activated receptor gamma, co-activator 1 (PGC-1 alpha or PPARGC1A) gene encodes a 91 kDa nuclear protein that acts as a transcriptional co-activator involved in energy metabolism. Interaction with PPAR gamma allows it to interface with numerous transcription factors such as cAMP response element binding protein (CREB) and nuclear respiratory factors (NRFs). It is believed to be a master integrator between external stimuli and cellular response, in particular mitochondrial biogenesis. It is also a major factor in muscle type determination. Recent research has shown that single-nucleotide polymorphism (SNP) mutations were associated with specific meat characteristics in pigs, which may lead to improvement in pork meat quality (PMID: 21680104).
Because PGC-1 alpha is also a transcriptional co-activator of antioxidant genes, researchers have investigated the possible link between PGC-1alpha and Parkinson’s disease. Statistical analysis has shown an association between SNP mutations and the longevity and age of onset of Parkinson’s disease (PMID: 21595954).
Interestingly, the PGC-1 alpha gene is located in a region known as Human Accelerated Region 20 (HAR 20) it is one of 49 regions in the human genome that are conserved in vertebrate evolution but show striking rapid changes in human sequences, suggesting that genes located in these regions are crucial in human evolutionary divergence from other animals.
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