MPV17 mutation–related mitochondrial DNA depletion syndrome: A case series in infants

Indian Journal of Gastroenterology - January–February 2023 Highlights

“…Deficiencies of mitochondrial DNA cause reduction in one or more respiratory chain proteins, leading to organ dysfunction and cell death. Samanta et al, from the Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India, report four infants with liver disease accompanied by mutations in the genes that control the production of a mitochondrial inner membrane protein called MPV17 [13]. Two of these infants died, while two that had cholestasis as the major feature were alive at 1 and 2 years, respectively.…”