作为复杂遗传性状的代谢：一种系统生物学方法，对先天性代谢缺陷和临床疾病的影响。
Metabolism as a complex genetic trait, a systems biology approach: implications for inborn errors of metabolism and clinical diseases.
作者信息
Vockley Jerry
机构信息
Department of Pediatrics, The Children's Hospital of Pittsburgh, University of Pittsburgh School of Medicine, 3705 Fifth Avenue, Pittsburgh, PA 15238, USA.
出版信息
J Inherit Metab Dis. 2008 Oct;31(5):619-29. doi: 10.1007/s10545-008-1005-8. Epub 2008 Oct 5.
Abstract
Multifactorial and polygenic inheritance is commonly recognized for many genetic conditions including physical anomalies, complex congenital malformation syndromes, and even common disorders such as adult-onset diabetes mellitus. It has only recently been suggested as a mechanism for inheritance in inborn errors of metabolism. This article reviews the phenomenon of multiple partial enzyme deficiencies leading to clinical relevant biochemical derangements (synergistic heterozygosity) and its implications for other more common disorders such as diabetes and obesity.
摘要
多因素和多基因遗传在许多遗传疾病中普遍存在，包括身体异常、复杂的先天性畸形综合征，甚至像成人发病型糖尿病这样的常见疾病。直到最近，它才被认为是先天性代谢缺陷的一种遗传机制。本文综述了多种部分酶缺乏导致临床相关生化紊乱（协同杂合性）的现象及其对其他更常见疾病如糖尿病和肥胖症的影响。
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