ALDH2 stands for Aldehyde Dehydrogenase 2, an important enzyme involved in alcohol metabolism and is responsible for the breakdown of a toxic compound called acetaldehyde. ALDH2 is a mitochondrial enzyme found in the liver and mucosa of the upper intestinal tract, among other tissues, and is primarily responsible for the oxidation of simple aldehydes such as acetaldehyde, a potential carcinogen. The reaction is the result of an accumulation of acetaldehyde, a metabolic byproduct of the catabolic metabolism of alcohol, and is caused by an aldehyde dehydrogenase 2 deficiency. This is called heterozygous (1 mutated gene) or homozygous (2 mutated genes) for the ALDH2 mutation. Please enable it to take advantage of the complete set of features! The results showed that the stem cell-derived factor 1 (SDF-1)/C-X-C chemokine receptor 4 (CXCR4) axis played a major role in the recruitment of FPCs.  |  There is no exact data point for how many people have ALDH2 Deficiency, but estimates range between 35-50% of all individuals of East Asian descent and from 600 million to over 1 billion globally. The ALDH2 enzyme is responsible for detoxifying acetaldehyde, so if you're ALDH2 deficient your body will undergo acetaldehyde toxicity whenever you … On average, 50% of the children will receive the mother’s mutated gene and will have ALDH2 Deficiency. Cheng M, Huang K, Zhou J, Yan D, Tang YL, Zhao TC, Miller RJ, Kishore R, Losordo DW, Qin G. J Mol Cell Cardiol. However, the expression patterns and specific functions of ALDH2 in skeletal muscles are still unclear. However, the role and mechanisms of cardiac fibrosis in this process remain largely unknown. 2017 Sep 5;136(10):940-953. doi: 10.1161/CIRCULATIONAHA.117.027889. 2021 Feb;19:80-91. doi: 10.1016/j.cophys.2020.10.004. Since the children will get 1 gene from their mother and 1 from their father, each child will have 1 mutated gene and 1 normal gene. 2015 Feb;1852(2):310-8. doi: 10.1016/j.bbadis.2014.07.014. People of Irish or Scandinavian descent may experience Alcohol Flush Reaction. Alcohol flush reaction (AFR) is a condition in which a person develops flushes or blotches associated with erythema on the face, neck, shoulders, and in some cases, the entire body after consuming alcoholic beverages. Approximately 50% of Pacific Rim Asians as well as Taiwanese and Vietnamese are deficient in ALDH2 activity. Acetaldehyde is a carcinogen that gets into the body in a number of different ways. One example is the toxin acetaldehyde that enters our body when we consume alcohol. You can find out if you are heterozygous or homozygous for the ALDH2 mutation by Testing for ALDH2 Deficiency. Disulfiram irreversibly inhibits acetaldehyde dehydrogenase and causes acetaldehyde to accumulate following ingestion of alcohol. Ghadge SK, Mühlstedt S, Ozcelik C, Bader M. Pharmacol Ther. Cardiac fibrosis is a common feature of various cardiovascular diseases. 2013;3(1):3-10. doi: 10.7150/thno.4621. The mother has ALDH2 Deficiency with 1 mutated ALDH2 Gene. Vietnamese, Filipino, Thai, and other Southeast Asian ethnicities also have a high frequency ALDH2 Deficiency. ALDH2; Cardiac fibrosis; FPCs; ROS; SDF-1. At these concentrations, acetaldehyde causes Alcohol Flush Reaction. Those with 2 mutated ALDH2 Genes have an even lower ability to breakdown acetaldehyde. Furthermore, FPCs were isolated and cultured for in vitro mechanistic studies. Those who are homozygous for the mutation will have an even lower ability to process acetaldehyde, and experience Alcohol Flush Reaction more intensely. COVID-19 is an emerging, rapidly evolving situation. Previous studies showed that acetaldehyde dehydrogenase 2 (ALDH2) deficiency exacerbated pressure overload-induced heart failure. ALDH2 Deficiency is inherited, meaning that the disorder is genetic, and is passed down from parents to their children. At random, each child will get one of their mother’s genes. You can spread awareness about ALDH2 Deficiency by sharing information with friends, family, and your community. Epub 2014 Jul 30. Previous studies showed that acetaldehyde dehydrogenase 2 (ALDH2) deficiency exacerbated pressure overload-induced heart failure. Nearly 8% of the world's population have an inactivating mutation in the ALDH2 gene. Innate immunity derived factors as external modulators of the CXCL12-CXCR4 axis and their role in stem cell homing and mobilization. ALDH2 Deficiency and Alcohol Flush Solution Resources. Cardiac fibrosis is a common feature of various cardiovascular diseases. Echocardiography and histological analysis revealed cardiac dysfunction and enhanced cardiac fibrosis in TAC-operated animals; ALDH2 deficiency further aggravated these changes. Please feel free to promote this information by sharing this page on Facebook or Twitter. It only takes one of those ALDH2 Genes to be mutated for an individual to have ALDH2 Deficiency. Get the latest public health information from CDC: https://www.coronavirus.gov.  |  Interleukin-10 Inhibits Bone Marrow Fibroblast Progenitor Cell-Mediated Cardiac Fibrosis in Pressure-Overloaded Myocardium. Each person has 2 copies of every gene, one from his/her mother, and one from his/her father. Copyright © 2019 The Authors. National Center for Biotechnology Information, Unable to load your collection due to an error, Unable to load your delegates due to an error. Acetaldehyde dehydrogenase 2 (ALDH2) deficiency exacerbates pressure overload-induced cardiac dysfunction by inhibiting Beclin-1 dependent autophagy pathway. ALDH2 stands for Aldehyde Dehydrogenase 2, an important enzyme involved in alcohol metabolism and is responsible for the breakdown of a toxic compound called acetaldehyde.  |  HHS Theranostics. Being deficient in the ALDH2 enzyme means that your body is less able to safely deal with a particular set of toxins that can enter from the external environment. The easiest way to tell if you have ALDH2 Deficiency is whether or not you experience Alcohol Flush Reaction. The ALDH2 enzyme converts acetaldehyde into non-toxic acetic acid, also known as vinegar. The father has 2 normal ALDH2 Genes. Keywords: ALDH2 Deficiency is primarily found in individuals of Chinese, Japanese, and Korean descent. ALDH2 Deficiency is caused by a mutation in the ALDH2 Gene. The father has ALDH2 Deficiency with 2 mutated genes. Background: It is estimated that 1 billion people in the world have a point mutation in the gene encoding the aldehyde dehydrogenase 2 (ALDH2) enzyme, the primary enzyme responsible for the metabolism of acetaldehyde. This study aimed to investigate the effect of ALDH2 deficiency on cardiac fibrosis in transverse aortic constriction (TAC) induced pressure overload model in mice. This study aimed to investigate the effect of ALDH2 deficiency on cardiac fibrosis in transverse aortic … To find out if you have the mutated ALDH2 Gene, you can have your entire genome tested with a simple kit. Let’s look at the two scenarios below to understand how this works. There is less research on ALDH2 Deficiency in Caucasians as it is much more rare than in East Asians. Although Alcohol Flush Reaction is commonly called Asian Flush or Asian Glow, symptoms of ALDH2 Deficiency are also found in Caucasians as well as Native Americans. The presence of this mutation is called ALDH2 deficiency. Find NCBI SARS-CoV-2 literature, sequence, and clinical content: https://www.ncbi.nlm.nih.gov/sars-cov-2/. However, the role and mechanisms of cardiac fibrosis in this process remain largely unknown. Shen C, Wang C, Fan F, Yang Z, Cao Q, Liu X, Sun X, Zhao X, Wang P, Ma X, Zhu H, Dong Z, Zou Y, Hu K, Sun A, Ge J. Biochim Biophys Acta. In conclusion, our research reveals that increased bone marrow FPCs mobilization and myocardial homing contribute to the enhanced cardiac fibrosis and dysfunction induced by TAC in ALDH2 KO mice via exacerbating accumulation of ROS in BM and myocardial SDF-1 expression. Normally, acetaldehyde is quickly broken down, but in those with ALDH2 Deficiency, acetaldehyde accumulates to very high concentrations (more than 10x of an individual with normal ALDH2). Those with ALDH2 Deficiency should limit their exposure to acetaldehyde. 2015 Apr;81:49-53. doi: 10.1016/j.yjmcc.2015.01.024. Epub 2017 Jun 30. Acetaldehyde dehydrogenases (EC 1.2.1.10) are dehydrogenase enzymes which catalyze the conversion of acetaldehyde into acetic acid. ALDH2 Deficiency is genetically inherited and is present in 35-40% of people of East Asian descent.