Results 51 to 60 of about 27,503 (244)

Expanding the MRPS34 Genotype–Phenotype Correlation: Two Novel Cases and a Cohort Review [PDF]

JIMD Rep
ABSTRACT MRPS34 encodes a mitoribosomal protein essential for mitochondrial translation. Biallelic pathogenic variants in MRPS34 cause Combined Oxidative Phosphorylation Deficiency 32 (COXPD32), a rare mitochondrial disorder within the Leigh syndrome spectrum (LSS), ranging from fatal in infancy to adult survival.
Lundquist A, Parikh S, Hansen T, Wibrand F, Østergaard E.   +4 more
europepmc   +2 more sources

Leigh syndrome: One disorder, more than 75 monogenic causes. [PDF]

, 2016
Leigh syndrome is the most common pediatric presentation of mitochondrial disease. This neurodegenerative disorder is genetically heterogeneous, and to date pathogenic mutations in >75 genes have been identified, encoded by 2 genomes (mitochondrial and ...
Rahman, S, Compton, Alison G., Rahman, Shamima, Thorburn, DR, Compton, AG, Thorburn, David R., Lake, Nicole J., Lake, NJ   +7 more
core   +1 more source

Xenogeneic Mitochondrial Transplantation Improves Selected Age‐Associated Phenotypes in Mice

Advanced Science, EarlyView.
Yak‐derived xenogeneic mitochondrial transplantation improves selected age‐associated phenotypes in mice, enhances mitochondrial functional readouts, and engages host mitochondrial quality‐control pathways. Broad tissue biodistribution, increased ATP production and mtDNA copy number, reduced ROS levels and dysfunctional mitochondria, improved motility ...
Wenpeng Li, Xijia Wang, Yaning Hu, Zhen Yang, Tian Niu, Xingbo Zhao   +5 more
wiley   +1 more source

Mitochondrial cytopathy with rare double mutation of mitochondrial gene: one case report and literature review

Chinese Journal of Contemporary Neurology and Neurosurgery
Objective To retrospectively analyze the clinical, imaging, pathological and genotypic characteristics of one case of mitochondrial cytopathy with rare double mutation of mitochondrial gene.
XU Tian, SHI Zhi-hong, ZHAO Wen-juan
doaj   +1 more source

Leigh syndrome associated with TRMU gene mutations [PDF]

, 2020
tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase (TRMU) deficiency causes an early onset potentially reversible acute liver failure, so far reported in less than 30 patients.
Gort, Laura, Tort, Frederic, Miguel, Lucía Dougherty-de, Sala-Coromina, Júlia, Unceta-Suárez, María, Garcia-Arumi, Elena, Universitat Autònoma de Barcelona, Del Toro, Mireia, Lasa-Aranzasti, Amaia, Carreño Gago, Lidia, Arranz-Amo, Jose Antonio, Sanchez-Montañez, Angel, de las Heras, Javier, Carnicer, Clara   +13 more
core   +1 more source

m.10010T>C Mitochondrial Disease: A Case Report With Hypoparathyroidism and Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Mitochondria are essential intracellular organelles that play a critical role in cellular metabolism, including the regulation of intracellular calcium signaling. Advances in genomic sequencing have facilitated the identification of rare pathogenic mitochondrial DNA (mtDNA) genetic variants in patients with unexplained endocrine disorders.
Jacob Mohr, Anja Lisbeth Frederiksen, Morten Duno, Anne Pernille Hermann, Trine Maxel Juul, Simone Rask Nielsen   +5 more
wiley   +1 more source

Response to immunotherapy in a patient with adult onset Leigh syndrome and T9176C mtDNA mutation

Molecular Genetics and Metabolism Reports, 2016
Leigh syndrome is a mitochondrial disease caused by mutations in different genes, including ATP6A for which no known therapy is available. We report a case of adult-onset Leigh syndrome with response to immunotherapy.
Miguel Chuquilin, Raghav Govindarajan, Dawn Peck, Esperanza Font-Montgomery   +3 more
doaj   +1 more source

Transcriptomic analyses reveal neuronal specificity of Leigh syndrome associated genes [PDF]

, 2022
Leigh syndrome is a rare inherited, complex, neurometabolic disorder with genetic and clinical heterogeneity. Features present in affected patients range from classical stepwise developmental regression to ataxia, seizures, tremor, and occasionally ...
Rahman, Shamima, Wahedi, Azizia, Skene, Nathan, Soondram, Chandika, Murphy, Alan E   +4 more
core  

A Case of Multiple Mitochondrial Dysfunctions Syndrome 1 and Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Multiple mitochondrial dysfunctions syndrome 1 (MMDS1, MIM #605711) due to NFU1 gene defects is an ultra‐rare autosomal recessive inborn error of metabolism associated with reduced function of NFU1 iron–sulfur cluster (ISC) scaffold protein.
Charles R. DiFalco, Aaron Williams, Claudia Soler‐Alfonso, Emily Waskow, Elizabeth Mizerik, Fernando Scaglia, Chaya N. Murali   +6 more
wiley   +1 more source

One‐step generation of heritable mitochondrial DNA multiplex‐engineered rats using DddA‐derived cytosine base editor

Animal Models and Experimental Medicine, EarlyView.
We established that mixed DdCBE microinjection is an efficient, heritable, and precise strategy for generating multiplex mtDNA mutant rats. This advancement significantly expands the utility of DdCBEs for mitochondrial disease modeling, providing a robust platform for exploring the pathogenic mechanisms of complex mtDNA mutations and developing ...
Xu Zhang, Keru Li, Lei Tan, Wei Chen, Shan Gao, Chenyang Liu, Shuo Pan, Jiayue He, Ning Liu, Gefan Wan, Wei Dong, Weining Kong, Bin Shen, Xiaolong Qi, Yuanwu Ma   +14 more
wiley   +1 more source