相关实验视频

Updated: Jan 18, 2026

Genotyping Single Nucleotide Polymorphisms in the Mitochondrial Genome by Pyrosequencing

Genotyping Single Nucleotide Polymorphisms in the Mitochondrial Genome by Pyrosequencing

Published on: February 10, 2023

在正常皮肤中的线粒体DNA变异:对流行病原体变异和质量控制监测的洞察力

Kohta Nakamura¹, Yasunari Sato², Masao Hashimoto²

¹Diagnostics and Therapeutics of Intractable Diseases, Intractable Disease Research Center, Graduate School of Medicine, Juntendo University, Tokyo, Japan.

|September 11, 2025

概括

正常皮肤中的线粒体DNA变异显示出令人惊的多样性. 一些病原性突变是常见的和同质体的,表明复杂的细胞质量控制机制保持线粒体健康.

科学领域:

基因组学就是基因组学.
细胞生物学细胞生物学
线粒体医学线粒体医学

背景情况:

正常组织中的线粒体基因组多样性在很大程度上是未知的,因为每细胞的mtDNA拷贝数量很高.
了解这种多样性对于解释健康和疾病中的线粒体变异至关重要.

研究的目的:

在乳腺手术患者的正常皮肤组织中分析线粒体DNA变异.
为了研究异质体水平和致病性线粒体变异的分布.
探索线粒体拷贝数,变体和恒温之间的关系.

主要方法:

在119个乳腺手术病例中,从两个不同的正常皮肤部位深度测序线粒体DNA.
变体调用和分类到同质体和异质体组.
对MITOMAP致病变体和AlphaMissense预测突变的分析.
评估线粒体拷贝数的变化.

主要成果:

确定了1337种线粒体基因组变异,其中59.1%在编码区域.
大多数变体是同质体 (81.1%) 或低异质体 (14.1%).
在多名患者和两种皮肤部位中发现了常见的同质体致病变体;罕见的异质体变体是患者特异的和部位特异的.
病原性突变在同质体变异中较少发生,但在异质体变异中更常见.
线粒体拷贝数增加与致病变异相关.

结论:

正常的皮肤含有多种类型的线粒体DNA变体,其中相当一部分是同质体的.
细胞机制可以逃避或减轻致病性线粒体突变的影响.
线粒体拷贝数的增加可能是对致病变异的补偿反应.
这项研究增强了对线粒体基因组复杂性和正常人皮肤中的恒温的理解.

关键词:

深度测序是一种深度测序.异质体比率是异质体比的比率.线粒体DNA是线粒体的DNA.致病性变体是一种致病性变体.变体的流行率变体的流行率.

更多相关视频

Author Spotlight: Transmitochondrial Cybrid Generation Using Cancer Cell Lines

Author Spotlight: Transmitochondrial Cybrid Generation Using Cancer Cell Lines

Published on: March 17, 2023

An In Vitro Approach to Study Mitochondrial Dysfunction: A Cybrid Model

An In Vitro Approach to Study Mitochondrial Dysfunction: A Cybrid Model

Published on: March 9, 2022

相关概念视频

Animal Mitochondrial Genetics

Animal Mitochondrial Genetics

Among all the organelles in an animal cell, only mitochondria have their own independent genomes. Animal mitochondrial DNA is a double-stranded, closed-circular molecule with around 20,000 base pairs. Mitochondrial DNA is unique in that one of its two strands, the heavy, or H, -strand is guanine rich, whereas the complementary strand is cytosine rich and called the light, or L, -strand. Compared to nuclear DNA, mitochondrial DNA has a very low percentage of non-coding regions and is marked by...

Comparing Copy Number Variations and SNPs

Comparing Copy Number Variations and SNPs

Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...

Mitochondrial Precursor Proteins

Mitochondrial Precursor Proteins

Mitochondrial precursors are partially unfolded or loosely folded polypeptide chains. Newly synthesized precursors are inhibited from spontaneously folding into their native conformation by the cytosolic chaperones, heat shock proteins 70 (Hsp70), and mitochondrial import stimulation factors (MSFs). Precursors bound to MSFs are guided to the TOM70-TOM37 receptors, while precursors bound to Hsp70 chaperones are targetted to TOM20-TOM22 receptor complexes.
Most of the mitochondrial...

Modern Molecular Taxonomy

Modern Molecular Taxonomy

Advancements in molecular biology have revolutionized the identification and characterization of bacteria, with multiple methods leveraging DNA sequencing for enhanced precision. As sequencing technologies improve and costs decline, these approaches are increasingly used in clinical, environmental, and evolutionary studies.Multilocus Sequence Typing (MLST) examines several housekeeping genes, essential chromosomal genes encoding cellular functions, to distinguish strains. Approximately...

Nucleotide Excision Repair

Nucleotide Excision Repair

DNA Distortion and Damage
Cells are regularly exposed to mutagens—factors in the environment that can damage DNA and generate mutations. UV radiation is one of the most common mutagens and is estimated to introduce a significant number of changes in DNA. These include bends or kinks in the structure, which can block DNA replication or transcription. If these errors are not fixed, the damage can cause mutations, which in turn can result in cancer or disease depending on which sequences are...

Export of Mitochondrial and Chloroplast Genes

Export of Mitochondrial and Chloroplast Genes

A eukaryotic cell can have up to three different types of genetic systems: nuclear, mitochondrial, and chloroplast. During evolution, organelles have exported many genes to the nucleus; this transfer is still ongoing in some plant species. Approximately 18% of the Arabidopsis thaliana nuclear genome is thought to be derived from the chloroplast’s cyanobacterial ancestor, and around 75% of the yeast genome derived from the mitochondria’s bacterial ancestor. This export has occurred...