ANTAGONISTIC PLEIOTROPY, MUTATION ACCUMULATION, AND HUMAN GENETIC-DISEASE
ANTAGONISTIC PLEIOTROPY, MUTATION ACCUMULATION, AND HUMAN GENETIC-DISEASE
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DOI：
10.1007/bf01436004
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发表时间：
1993-01-01
期刊：
影响因子：
1.5
通讯作者：
ALBIN, RL
中科院分区：
文献类型：
--
作者：
ALBIN, RL
衰老的拮抗多效性理论是对衰老存在的最有说服力的理论解释。到目前为止，还没有基因座或等位基因已被确定在野生种群的功能预测的多效性理论。人类遗传疾病提供了鉴定潜在的多效性等位基因/基因座的机会。四种人类遗传性疾病--亨廷顿氏病、特发性血色素沉着症、强直性肌营养不良和阿尔茨海默氏病--可能表现出多效性效应，对这些疾病的进一步研究可能导致鉴定出导致衰老的多效性基因。无法找到与这些致病等位基因相关的早期生命选择性益处，将有利于衰老的主要替代遗传学解释，即突变累积理论。
The antagonistic pleiotropy theory of senescence is the most convincing theoretical explanation of the existence of aging. As yet, no locus or allele has been identified in a wild population with the features predicted by the pleiotropic theory. Human genetic diseases offer the opportunity to identify potentially pleiotropic alleles/loci. Four human genetic diseases - Huntington's disease, idiopathic hemochromatosis, myotonic dystrophy, and Alzheimer's disease - may exhibit pleiotropic effects and further study of these diseases might result in the identification of pleiotropic genes causing aging. Inability to find an early life selective benefit associated with these disease-causing alleles would favor the major alternative genetic explanation for aging, the mutation accumulation theory.