案例报告:MRPS36中的双变异,编码2-氧格酸脱酶复合物的组成部分,导致李氏综合征
Huafang Jiang1,2, Chaolong Xu2, Zhimei Liu2
1Department of Pediatrics, Weifang Maternal and Child Health Hospital, Peking University Health Science Center-Weifang Joint Research Center for Maternal and Child Health, Weifang, China.
Frontiers in pediatrics
|September 29, 2025
概括
在MRPS36基因的遗传变异是雷氏综合征的新奇原因,严重的代谢障碍. 这个案例突出了MRPS36作为一种致病基因,扩大了对利氏综合征遗传原因的理解.
科学领域:
- 遗传学 遗传学 是一个
- 代谢障碍 代谢障碍 代谢障碍
- 神经科学是一个神经科学.
背景情况:
- 该MRPS36基因编码的2-oxoglutarate脱酶复合体 (OGDHC) 的E4子单元,对于三酸循环至关重要.
- 缺少OGDHC会导致代谢障碍,包括利氏综合征,其特征是发育迟缓和运动障碍.
- 以前,在两个患有莱氏综合征的兄弟姐妹中,仅报告了一种同卵性MRPS36变异.
研究的目的:
- 报告第三例与MRPS36变异相关的利氏综合征病例.
- 为了进一步阐明MRPS36相关的李氏综合征的临床和遗传谱.
主要方法:
- 一个患有利氏综合征的2岁男孩的临床病例介绍.
- 大脑MRI,肌肉活检和皮肤纤维细胞分析用于线粒体功能.
- 整体外基因组测序以识别遗传变异.
主要成果:
- 这位患者出现了全局发育迟缓, dystonia,chorea 和乳酸水平升高.
- 核磁共振扫描显示了渐进的基底腺病变;肌肉活检显示了异常的线粒体.
- 整体外基因组测序发现了两种新型化合物异质合体MRPS36变体:c.42+1G>A和c.296G>C (p.Arg99Pro).
结论:
- 这一案例证实MRPS36是导致Leigh综合征的病原性原因.
- 临床特征包括发育迟缓,运动障碍和渐进的基底腺缩.
- 这些发现扩大了利氏综合征的遗传景观.
相关概念视频
01:31Translation
Lesson: 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
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
01:18ATP Synthase: Structure
ATP synthase or ATPase is among the most conserved proteins found in bacteria, mammals, and plants. This enzyme can catalyze a forward reaction in response to the electrochemical gradient, producing ATP from ADP and inorganic phosphate. ATP synthase can also work in a reverse direction by hydrolyzing ATP and generating an electrochemical gradient. Different forms of ATP synthases have evolved special features to meet the specific demands of the cell. Based on their specific feature, ATP...
01:43Incomplete Dominance
Gregor Mendel's work (1822 - 1884) was primarily focused on pea plants. Through his initial experiments, he determined that every gene in a diploid cell has two variants called alleles inherited from each parent. He suggested that amongst these two alleles, one allele is dominant in character and the other recessive. The combination of alleles determines the phenotype of a gene in an organism.
02:41Lethal Alleles
Agouti: A Lethal Allele
Lucien Cuénot discovered lethal alleles in 1905 while studying the inheritance of coat color in mice. The agouti gene is responsible for the color of the coat in mice. This gene codes for an agouti-signaling protein, which is responsible for melanin distribution in mammals. The wild-type allele gives rise to gray-brown coat color in mice, while the mutant allele gives rise to yellow coat color. In addition to coat color, the agouti gene is associated with the yellow...
Lucien Cuénot discovered lethal alleles in 1905 while studying the inheritance of coat color in mice. The agouti gene is responsible for the color of the coat in mice. This gene codes for an agouti-signaling protein, which is responsible for melanin distribution in mammals. The wild-type allele gives rise to gray-brown coat color in mice, while the mutant allele gives rise to yellow coat color. In addition to coat color, the agouti gene is associated with the yellow...
01:31Translation
Lesson: 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
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
01:20Inborn Errors of Metabolism
Phenylketonuria (PKU) is a protein metabolism disorder characterized by high blood levels of the amino acid phenylalanine. This results from a mutation in the gene responsible for phenylalanine hydroxylase, an enzyme that converts phenylalanine into tyrosine. When this enzyme is deficient, phenylalanine builds up in the blood, leading to symptoms such as vomiting, rashes, seizures, growth deficiency, and severe mental retardation. An early diagnosis and a diet restricting phenylalanine intake...