Department of Genetic Medicine, Weill Cornell Medical College, New York, NY, USA.
Cancer Gene Ther. 2022 Jul;29(7):889-896. doi: 10.1038/s41417-021-00399-1. Epub 2021 Nov 19.
Approximately 8% of the world population and 35-45% of East Asians are carriers of the hereditary disorder aldehyde dehydrogenase 2 (ALDH2) deficiency. ALDH2 plays a central role in the liver to metabolize ethanol. With the common E487K variant, there is a deficiency of ALDH2 function; when ethanol is consumed, there is a systemic accumulation of acetaldehyde, an intermediate product in ethanol metabolism. In ALDH2-deficient individuals, ethanol consumption acutely causes the "Alcohol Flushing Syndrome" with facial flushing, tachycardia, nausea, and headaches. With chronic alcohol consumption, ALDH2 deficiency is associated with a variety of disorders, including a remarkably high risk for aerodigestive tract cancers. Acetaldehyde is a known carcinogen. The epidemiologic data relating to the association of ALDH2 deficiency and cancer risk are striking: ALDH2 homozygotes who are moderate-to-heavy consumers of ethanol have a 7-12-fold increased risk for esophageal cancer, making ALDH2 deficiency the most common hereditary disorder associated with an increased cancer risk. In this review, we summarize the genetics and biochemistry of ALDH2, the epidemiology of cancer risk associated with ALDH2 deficiency, the metabolic consequences of ethanol consumption associated with ALDH2 deficiency, and gene therapy strategies to correct ALDH2 deficiency and its associated cancer risk. With the goal of reducing the risk of aerodigestive tract cancers, in the context that ALDH2 is a hereditary disorder and ALDH2 functions primarily in the liver, ALDH2 deficiency is an ideal target for the application of adeno-associated virus-mediated liver-directed gene therapy to prevent cancer.
全世界约有 8%的人口和 35-45%的东亚人是遗传性醛脱氢酶 2(ALDH2)缺陷的携带者。ALDH2 在肝脏中起着代谢乙醇的核心作用。常见的 E487K 变体导致 ALDH2 功能缺陷;当摄入乙醇时,会导致乙醇代谢中的中间产物乙醛在体内积累。在 ALDH2 缺陷个体中,乙醇摄入会急性引起“酒精潮红综合征”,表现为面部潮红、心动过速、恶心和头痛。随着慢性饮酒,ALDH2 缺陷与多种疾病相关,包括呼吸道和消化道癌症的风险显著增加。乙醛是一种已知的致癌物质。与 ALDH2 缺陷和癌症风险相关的流行病学数据引人注目:中度至大量饮酒的 ALDH2 纯合子患食管癌的风险增加 7-12 倍,使 ALDH2 缺陷成为与癌症风险增加相关的最常见遗传性疾病。在这篇综述中,我们总结了 ALDH2 的遗传学和生物化学、与 ALDH2 缺陷相关的癌症风险的流行病学、与 ALDH2 缺陷相关的乙醇代谢后果,以及纠正 ALDH2 缺陷及其相关癌症风险的基因治疗策略。鉴于 ALDH2 是一种遗传性疾病,并且 ALDH2 主要在肝脏中发挥作用,为了降低呼吸道和消化道癌症的风险,ALDH2 缺陷是应用腺相关病毒介导的肝定向基因治疗来预防癌症的理想靶点。