Mitochondrial mutations and human disease.
Mitochondrial mutations and human disease.
复制标题
线粒体突变和人类疾病。
DOI：
10.1002/em.2850250607
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发表时间：
1995
影响因子：
2.8
通讯作者：
Grossman,LI
中科院分区：
文献类型：
--
作者：
Grossman,LI
线粒体基因组是通过氧化磷酸化产生ATP（5 '‐三磷酸腺苷）所必需的。随着年龄的增长，线粒体功能的逐渐下降一直被认为是衰老的一个因素。最近，各种疾病都与人类线粒体DNA的分子缺陷有关。在衰老和疾病两种情况下，症状通常是神经肌肉，反映了最依赖线粒体功能的组织。此外，在这两种情况下，线粒体遗传学的新特征导致基因型和表型之间的复杂关系。关于环境因素在这些相互作用中的作用的信息还很少。©1995 Wiley‐Liss, Inc。
The mitochondrial genome is essential for producing ATP (adenosine 5′ ‐triphosphate) via oxidative phosphorylation. The gradual decline of mitochondrial function with age has long been postulated as a factor in aging. More recently, a variety of diseases have been related to molecular defects in human mitochondrial DNA. In both the cases of aging and disease, symptoms were generally neuromuscular, reflecting the tissues most dependent upon mitochondrial function. Also, in both cases novel features of mitochondrial genetics led to complex relations between genotype and phenotype. Little information is yet available about the role of environmental agents in these interactions. © 1995 Wiley‐Liss, Inc.