Analytical, Diagnostic and Therapeutic Techniques and Equipment Commons^™

In A Model Of Batten Disease, Palmitoyl Protein Thioesterase-1 Deficiency Is Associated With Brown Adipose Tissue And Thermoregulation Abnormalities, Alfia Khaibullina, Nicholas Kenyon, Virginia Guptill, Martha M. Quezado, Li Wang, Deloris Koziol, Robert Wesley, Pablo R. Moya, Zhongjian Zhang, Arjun Saha, Anil B. Mukherjee, Zenaide M.N. Quezado

Anesthesiology and Critical Care Medicine Faculty Publications

Infantile neuronal ceroid lipofuscinosis (INCL) is a fatal neurodegenerative disorder caused by a deficiency of palmitoyl-protein thioesterase-1 (PPT1). We have previously shown that children with INCL have increased risk of hypothermia during anesthesia and that PPT1-deficiency in mice is associated with disruption of adaptive energy metabolism, downregulation of peroxisome proliferator-activated receptor γ coactivator 1α (PGC-1α), and mitochondrial dysfunction. Here we hypothesized that Ppt1-knockout mice, a well-studied model of INCL that shows many of the neurologic manifestations of the disease, would recapitulate the thermoregulation impairment observed in children with INCL. We also hypothesized that when exposed to cold, Ppt1-knockout …