相关实验视频

Updated: Jul 17, 2025

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

线粒体tRNAMT-TW m.5537_5538insT变体具有显著的家族内临床变异性

Lauren Strasser¹, Asif Doja^1,2, Jorge Davila^3,4

¹Division of Pediatric Neurology, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.

American journal of medical genetics. Part A

|September 1, 2023

概括

一种线粒体DNA变体 (m.5537_5538insT) 导致各种症状,包括利氏综合征和MELAS. 更高的异质体水平与症状严重程度相关,而不是特定的综合征.

科学领域:

遗传学是一个遗传学.
线粒体生物学线粒体生物学
神经学神经学

背景情况:

线粒体疾病表现出不同的临床和生化现象型.
线粒体DNA (mtDNA) 变异效应取决于异质体和组织分布.

研究的目的:

在一个多代家族中研究m.5537_5538insT mtDNA变异的临床谱和异质体模式.
确定异质体水平与临床表型之间的关联,包括以前未报告的表现,如MELAS综合征.

主要方法:

跨越四代人的血统分析.
在血液和尿液样本中量化mtDNA异质体水平.
受影响个体的临床表型.

主要成果:

十个人携带了m.5537_5538insT变体,具有不同的异质体水平.
观察到的表型范围从严重的利氏综合征和MELAS到较轻的线粒体症状.
这种变异与MELAS综合征有关,这种特异性mtDNA突变的表现以前没有报告过.
在异质质体水平和临床严重程度之间发现了相关性,但不是特定的综合征.

结论:

这种m.5537_5538insTmtDNA变体可以导致广泛的线粒体疾病,包括MELAS.
不同质体水平是这种变体引起的线粒体疾病临床严重性的关键决定因素.
这项研究扩大了与m.5537_5538insT变体相关的已知表型谱,并强调了异质体评估的重要性.

关键词:

李氏综合征 (Leigh综合征) 是一种不同质体性质的异质体.乳酸性酸性消化症乳酸性酸性消化症线粒体疾病线粒体疾病线粒体脑膜病变,乳酸性酸症和类似中风的发作 (MELAS).现型变异性的变化.

更多相关视频

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

An In Vitro Assay to Detect tRNA-Isopentenyl Transferase Activity

An In Vitro Assay to Detect tRNA-Isopentenyl Transferase Activity

Published on: October 8, 2018

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...

Translation

Translation

Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
Translation Produces the Building Blocks of Life
Proteins are...

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...

Point and Frameshift Mutations

Point and Frameshift Mutations

Point mutations are genetic alterations involving the change of a single nucleotide base pair in DNA. Depending on how the alteration affects protein synthesis, they can lead to various consequences.Point mutations fall into the following types:Silent mutations occur when a nucleotide change does not alter the amino acid sequence due to the redundancy of the genetic code. For instance, changing ACC to ACA still encodes threonine, leaving the protein function unaffected. This occurs because...

Mitochondrial Protein Sorting

Mitochondrial Protein Sorting

Mitochondria are double-membrane organelles of the eukaryotes involved in cellular metabolism, signaling, ATP synthesis, and programmed cell death. Each of these processes requires specific proteins and enzymes that must be correctly sorted to the right mitochondrial subcompartment for the proper functioning of the organelle.
Most of these mitochondrial proteins are encoded by the nucleus and imported to the mitochondria as unfolded or loosely folded precursors. Mitochondrial precursors...

Genetic Variation

Genetic Variation

Genetic variation is the diversity in DNA sequences found among individuals of the same species. This diversity is crucial for a species' survival because it helps organisms adapt to environmental changes. Genetic variation begins with fertilization, where an egg and sperm cell merge. Each of these cells carries 23 chromosomes, up to 46 in the fertilized egg. Chromosomes are long DNA strands that contain genes, the basic units of heredity.
Genes exist in different versions called alleles,...