Understanding the nomenclature of mitochondrial DNA mutations through examples of two specific disease entities: Mitochondrial encephalopathy with lactic acidosis and stroke-like episodes and Leber hereditary optic neuropathy.
Sign Up to like & getrecommendations! Published in 2022 at "Journal of the American Association of Nurse Practitioners"
DOI: 10.1097/jxx.0000000000000693
Abstract: ABSTRACT Mitochondrial diseases are genetic disorders that can arise either from maternally inherited mitochondrial DNA (mtDNA) or from mutations in nuclear DNA. This article is the second in a series of papers reviewing mitochondrial genetics… read more here.
Keywords: lactic acidosis; stroke like; acidosis stroke; encephalopathy lactic ... See more keywords
Glutamate-Induced Deregulation of Krebs Cycle in Mitochondrial Encephalopathy Lactic Acidosis Syndrome Stroke-Like Episodes (MELAS) Syndrome Is Alleviated by Ketone Body Exposure
Sign Up to like & getrecommendations! Published in 2022 at "Biomedicines"
DOI: 10.3390/biomedicines10071665
Abstract: (1) Background: The development of mitochondrial medicine has been severely impeded by a lack of effective therapies. (2) Methods: To better understand Mitochondrial Encephalopathy Lactic Acidosis Syndrome Stroke-like episodes (MELAS) syndrome, neuronal cybrid cells carrying… read more here.
Keywords: lactic acidosis; cycle; glutamate; encephalopathy lactic ... See more keywords