PMID- 31369712 OWN - NLM STAT- MEDLINE DCOM- 20201117 LR - 20201117 IS - 1205-7541 (Electronic) IS - 0008-4212 (Linking) VI - 98 IP - 2 DP - 2020 Feb TI - Genes and genetics in hyperhomocysteinemia and the "1-carbon metabolism": implications for retinal structure and eye functions. PG - 51-60 LID - 10.1139/cjpp-2019-0236 [doi] AB - Homocysteine (Hcy), a sulfur-containing nonproteinogenic amino acid, is generated as a metabolic intermediate. Hcy constitutes an important part of the "1-carbon metabolism" during methionine turnover. Elevated levels of Hcy known as hyperhomocysteinemia (HHcy) results from vitamin B deficiency, lack of exercise, smoking, excessive alcohol intake, high-fat and methionine-rich diet, and the underlying genetic defects. These factors directly affect the "1-carbon metabolism (methionine-Hcy-folate)" of a given cell. In fact, the Hcy levels are determined primarily by dietary intake, vitamin status, and the genetic blueprint of the susceptible individual. Although Hcy performs an important role in cellular functions, genetic alterations in any of the key enzymes responsible for the "1-carbon metabolism" could potentially upset the metabolic cycle, thus causing HHcy environment in susceptible people. As such, HHcy relates to several clinical conditions like atherosclerosis, myocardial infarction, stroke, cognitive impairment, dementia, Parkinson's disease, multiple sclerosis, epilepsy, and ocular disorders, among others. This article summarizes the findings from our laboratory and public database regarding genetics of HHcy and its effects on ocular disorders, their respective management during dysregulation of the 1-carbon metabolism. FAU - George, Akash K AU - George AK AD - Eye and Vision Science Laboratory, University of Louisville School of Medicine, Louisville, Kentucky 40202, USA. AD - Department of Physiology, University of Louisville School of Medicine, Louisville, Kentucky 40202, USA. FAU - Majumder, Avisek AU - Majumder A AD - Department of Medicine, UCSF Helen Diller Family Comprehensive Cancer Center, University of California San Francisco, San Francisco, California 94158, USA. FAU - Ice, Hayley AU - Ice H AD - Eye and Vision Science Laboratory, University of Louisville School of Medicine, Louisville, Kentucky 40202, USA. AD - Department of Physiology, University of Louisville School of Medicine, Louisville, Kentucky 40202, USA. FAU - Homme, Rubens P AU - Homme RP AD - Eye and Vision Science Laboratory, University of Louisville School of Medicine, Louisville, Kentucky 40202, USA. AD - Department of Physiology, University of Louisville School of Medicine, Louisville, Kentucky 40202, USA. FAU - Eyob, Wintana AU - Eyob W AD - College of Arts and Sciences, Case Western Reserve University, 10900 Euclid Ave, Cleveland, OH 44106, USA. FAU - Tyagi, Suresh C AU - Tyagi SC AD - Department of Physiology, University of Louisville School of Medicine, Louisville, Kentucky 40202, USA. FAU - Singh, Mahavir AU - Singh M AD - Eye and Vision Science Laboratory, University of Louisville School of Medicine, Louisville, Kentucky 40202, USA. AD - Department of Physiology, University of Louisville School of Medicine, Louisville, Kentucky 40202, USA. LA - eng PT - Journal Article PT - Review DEP - 20190801 PL - Canada TA - Can J Physiol Pharmacol JT - Canadian journal of physiology and pharmacology JID - 0372712 RN - 7440-44-0 (Carbon) SB - IM MH - Animals MH - Carbon/*metabolism MH - Humans MH - Hyperhomocysteinemia/*genetics/*metabolism/pathology/physiopathology MH - Retina/*pathology/*physiopathology OTO - NOTNLM OT - genetic polymorphism OT - hyperhomocysteinemic eye OT - oxidative stress OT - perte de la vision OT - polymorphisme genetique OT - stress oxydatif OT - vasculopathie OT - vasculopathy OT - vision loss OT - oeil hyperhomocysteinemique EDAT- 2019/08/02 06:00 MHDA- 2020/11/18 06:00 CRDT- 2019/08/02 06:00 PHST- 2019/08/02 06:00 [pubmed] PHST- 2020/11/18 06:00 [medline] PHST- 2019/08/02 06:00 [entrez] AID - 10.1139/cjpp-2019-0236 [doi] PST - ppublish SO - Can J Physiol Pharmacol. 2020 Feb;98(2):51-60. doi: 10.1139/cjpp-2019-0236. Epub 2019 Aug 1.