线粒体遗传学。

Mitochondrial Genetics.

机构信息

Molecular Brain Sciences Department, Centre for Addiction and Mental Health, Toronto, Canada.

出版信息

Adv Exp Med Biol. 2019;1158:247-255. doi: 10.1007/978-981-13-8367-0_13.

Abstract

The maternally inherited mitochondrial DNA (mtDNA) is located inside every mitochondrion, in variable number of copies, and it contains 37 crucial genes for cellular bioenergetics. This chapter will discuss the unique features of this circular genome including heteroplasmy, haplogroups, among others, along with the corresponding clinical relevance for each. The discussion also covers the nuclear-encoded mitochondrial genes (N > 1000) and the epistatic interactions between mtDNA and the nuclear genome. Examples of mitochondrial diseases related to specific mtDNA mutation sites of relevance for humans are provided. This chapter aims to provide an overview of mitochondrial genetics as an emerging hot topic for the future of medicine.

摘要

母系遗传的线粒体 DNA（mtDNA）位于每个线粒体内部，其拷贝数可变，包含 37 个对细胞生物能量至关重要的基因。本章将讨论这个环状基因组的独特特征，包括异质性、单倍群等，以及它们各自的临床相关性。讨论还涵盖了核编码的线粒体基因（N＞1000）以及 mtDNA 与核基因组之间的上位性相互作用。提供了与人类相关的特定 mtDNA 突变位点的线粒体疾病的例子。本章旨在概述线粒体遗传学，作为未来医学的一个新兴热门话题。