Epigenetic regulation in amyloid precursor protein and the Lesch-Nyhan syndrome

• Published in: Biochemical and biophysical research communications Vol. 446; no. 4; pp. 1091 - 1095
• Main Author: Nguyen, Khue Vu
• Format: Journal Article
• Language: English
• Published: United States Elsevier Inc 18.04.2014
• Subjects: Alzheimer disease; Alzheimer’s disease; amino acids; amyloid; Amyloid beta-Protein Precursor - genetics; Amyloid precursor protein; brain; Epigenesis, Genetic; Epigenetics; Epistasis; fibroblasts; Fibroblasts - metabolism; genes; HPRT; Humans; Hypoxanthine Phosphoribosyltransferase - genetics; Lesch-Nyhan syndrome; Lesch-Nyhan Syndrome - enzymology; Lesch-Nyhan Syndrome - genetics; Male; metabolism; mutation; neurodegenerative diseases; neuropathology; pathogenesis; patients; Polymorphism, Single Nucleotide; Promoter Regions, Genetic; protein isoforms; Protein Isoforms - genetics; RNA Precursors - genetics; RNA Splicing; Epigenetics; Lesch-Nyhan syndrome; Epistasis; HPRT; Alzheimer’s disease; Amyloid precursor protein

Lesch-Nyhan syndrome (LNS) is a neurogenetic disorder of purine metabolism in which the enzyme, hypoxanthine–guanine phosphoribosyltransferase (HPRT) is defective. A major unsolved question is how the loss of HPRT enzyme function affects the brain to cause the neurobehavioural syndrome in LNS and it...