Leigh syndrome: a tale of two genomes

AB Bakare, EJ Lesnefsky, S Iyer - Frontiers in Physiology, 2021 - frontiersin.org
Leigh syndrome is a rare, complex, and incurable early onset (typically infant or early
childhood) mitochondrial disorder with both phenotypic and genetic heterogeneity. The …

The tRNA regulome in neurodevelopmental and neuropsychiatric disease

J Blaze, S Akbarian - Molecular psychiatry, 2022 - nature.com
Abstract Transfer (t) RNAs are 70–90 nucleotide small RNAs highly regulated by 43 different
types of epitranscriptomic modifications and requiring aminoacylation ('charging') for mRNA …

The first two mitochondrial genomes for the genus Ramaria reveal mitochondrial genome evolution of Ramaria and phylogeny of Basidiomycota

Q Li, L Li, T Zhang, P Xiang, Q Wu, W Tu, Z Bao, L Zou… - IMA fungus, 2022 - Springer
In the present study, we assembled and analyzed the mitogenomes of two Ramaria species.
The assembled mitogenomes of Ramaria cfr. rubripermanens and R. rubella were …

Impact of mitochondrial A3243G heteroplasmy on mitochondrial bioenergetics and dynamics of directly reprogrammed MELAS neurons

DS Lin, YW Huang, CS Ho, TS Huang, TH Lee, TY Wu… - Cells, 2022 - mdpi.com
The MELAS syndrome primarily affecting the CNS is mainly caused by the m. A3243G
mutation. The heteroplasmy in different tissues affects the phenotypic spectrum, yet the …

Late onset of type 2 diabetes is associated with mitochondrial tRNATrp A5514G and tRNASer(AGY) C12237T mutations

L Yang, Q Guo, J Leng, K Wang… - Journal of Clinical …, 2022 - Wiley Online Library
Background Mitochondrial dysfunctions caused by mitochondrial DNA (mtDNA) pathogenic
mutations play putative roles in type 2 diabetes mellitus (T2DM) progression. But the …

Modeling mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes syndrome using patient-derived induced neurons generated by direct …

S Povea-Cabello, M Villanueva-Paz… - Cellular …, 2022 - liebertpub.com
Mitochondrial diseases are a heterogeneous group of rare genetic disorders caused by
mutations in nuclear or mitochondrial DNA (mtDNA). These diseases are frequently …

[HTML][HTML] Mitochondrial Dysfunctions: Genetic and Cellular Implications Revealed by Various Model Organisms

M Stańczyk, N Szubart, R Maslanka, R Zadrag-Tecza - Genes, 2024 - mdpi.com
Mitochondria play a crucial role in maintaining the energy status and redox homeostasis of
eukaryotic cells. They are responsible for the metabolic efficiency of cells, providing both …

Mitochondria: fundamental characteristics, challenges, and impact on aging

R Liang, L Zhu, Y Huang, J Chen, Q Tang - Biogerontology, 2024 - Springer
As one of the most vital organelles within biological cells, mitochondria hold an
irreplaceable status and play crucial roles in various diseases. Research and therapies …

Revealing the Impact of Mitochondrial Fitness During Early Neural Development Using Human Brain Organoids

AI Romero-Morales, V Gama - Frontiers in Molecular Neuroscience, 2022 - frontiersin.org
Mitochondrial homeostasis-including function, morphology, and inter-organelle
communication-provides guidance to the intrinsic developmental programs of …

[HTML][HTML] Mutational Screening for Mitochondrial tRNA Genes in 100 Women with Pre-Eclampsia

B Zhou, X Chu, C Zhang, X Liang - Human Heredity, 2022 - karger.com
Introduction: Impairment of mitochondrial function caused by pathogenic mitochondrial DNA
(mtDNA) mutations has been found to be associated with pre-eclampsia (PE). However, the …