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Mitochondrial replacement in human oocytes carrying pathogenic mitochondrial DNA mutations
A polymorphism within the conserved sequence box II region of the D-loop is identified as a plausible cause of preferential replication of specific mtDNA haplotypes, and a matching paradigm for selecting compatible donor mtDNA for MRT is proposed.
Mutation in TRMU related to transfer RNA modification modulates the phenotypic expression of the deafness-associated mitochondrial 12S ribosomal RNA mutations.
Findings indicate that the mutated TRMU, acting as a modifier factor, modulates the phenotypic manifestation of the deafness-associated 12S rRNA mutations.
Age-Related Accumulation of Somatic Mitochondrial DNA Mutations in Adult-Derived Human iPSCs.
Metabolic rescue in pluripotent cells from patients with mtDNA disease
Both reprogramming approaches offer complementary strategies for derivation of PSCs containing exclusively wild-type mtDNA, through spontaneous segregation of heteroplasmic mtDNA in individual iPS cell lines or mitochondrial replacement by SCNT in homoplasmi mtDNA-based disease.
Biparental Inheritance of Mitochondrial DNA in Humans
- S. Luo, C. A. Valencia, Taosheng Huang
- BiologyProceedings of the National Academy of Sciences
- 26 November 2018
The results suggest that, although the central dogma of maternal inheritance of mtDNA remains valid, there are some exceptional cases where paternal mtDNA could be passed to the offspring and may even lead to the development of new avenues for the therapeutic treatment for pathogenic mtDNA transmission.
Mutations in the UGO1-like protein SLC25A46 cause an optic atrophy spectrum disorder
It is demonstrated that SLC25A46, like Ugo1, is a modified carrier protein that has been recruited to the outer mitochondrial membrane and interacts with the inner membrane remodeling protein mitofilin (Fcj1).
Mutations of Human NARS2, Encoding the Mitochondrial Asparaginyl-tRNA Synthetase, Cause Nonsyndromic Deafness and Leigh Syndrome
These findings establish lesions in NARS2 as a new cause for nonsyndromic hearing loss and Leigh syndrome and demonstrate decreased steady-state levels of mt-tRNAAsn in fibroblasts from the Leigh syndrome patients.
Maternally inherited aminoglycoside-induced and nonsyndromic hearing loss is associated with the 12S rRNA C1494T mutation in three Han Chinese pedigrees.
Maternally Inherited Essential Hypertension Is Associated With the Novel 4263A>G Mutation in the Mitochondrial tRNAIle Gene in a Large Han Chinese Family
Evidence is provided that mitochondrial dysfunction caused by mitochondrial tRNAIle 4263A>G mutation is involved in essential hypertension, and may provide new insights into pathophysiology of maternally transmitted hypertension.
Mitochondrial Transfer RNAMet 4435A>G Mutation Is Associated With Maternally Inherited Hypertension in a Chinese Pedigree
The clinical, genetic, and molecular characterization of 1 Han Chinese family with suggestively maternally transmitted hypertension implies that the 4435A>G mutation may act as an inherited risk factor for the development of hypertension in this Chinese pedigree.