TRMT5 mutations are associated with features of complex hereditary spastic paraparesis

Mitochondrial DNA (mtDNA) encodes for 22 tRNAs (mt-tRNA) that undergo posttranscriptional modification.1,2 A specific nucleotide adjacent to the anticodon of mt-tRNA (position 37) is methylated (m1G37) to enhance translational efficiency/fidelity.3 The gene tRNA methyltransferase 5 (TRMT5) encodes a protein involved in m1G37 formation for some mitochondrial tRNAs3,4 and has been associated with combined oxidative phosphorylation deficiency 26 (COXPD26) (OMIM 616539).
Source: Neurology - Category: Neurology Authors: Tags: Spastic paraplegia, Muscle disease, Mitochondrial disorders CLINICAL/SCIENTIFIC NOTES Source Type: research

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Are there common regulators of aging to be found among transcription factors? Sweeping, complex, tissue-specific and species-specific changes in gene expression take place over the course of aging. If these are reactions to comparatively straightforward processes of molecular damage at the root of aging, processes that are similar between species, then it is possible that there also exist at least a few regulators that are also comparatively straightforward and similar between species. Where is the leap from simplicity to complexity? Is it that the immediate reaction to damage is complicated, with a hundred different senso...
Source: Fight Aging! - Category: Research Authors: Tags: Daily News Source Type: blogs
Conclusions:* Our findings demonstrate that p16 plays a key role in hepatic lipid metabolism and may thus contribute to the development of metabolic diseases.
Source: GEO: Gene Expression Omnibus - Category: Genetics & Stem Cells Tags: Expression profiling by array Mus musculus Source Type: research
Aminoacyl-tRNA synthetases (aaRSs) have long been viewed as mere housekeeping proteins and have therefore often been overlooked in drug discovery. However, recent findings have revealed that many aaRSs have noncanonical functions, and several of the aaRSs have been linked to autoimmune diseases, cancer, and neurological disorders. Deciphering these roles has been challenging because of a lack of tools to enable their study. To help solve this problem, we have generated recombinant high-affinity antibodies for a collection of thirteen cytoplasmic and one mitochondrial aaRSs. Selected domains of these proteins were produced ...
Source: Journal of Biological Chemistry - Category: Chemistry Authors: Tags: Editors ' Picks Source Type: research
AbstractInHomo sapiens, the apoptosis ‐inducing factor (AIF) family is represented by three different proteins, known as AIF, AMID and AIFL, that have in common the mitochondrial localisation in healthy cells, the presence of FAD‐ and NADH‐dependent domains involved in an ‐albeit yet not well understood‐ oxidoreductase functio n and their capability to induce programmed cell death. AIF is the best characterised family member, while the information about AMID and AIFL is much scarcer. Nonetheless, available data support different roles as well as mechanisms of action of their particular apoptogenic and redox domai...
Source: IUBMB Life - Category: Research Authors: Tags: SPECIAL ISSUE Source Type: research
AbstractMaple syrup urine disease (MSUD) is characterized by a deficiency in the mitochondrial branched-chain α-keto acid dehydrogenase complex activity and, consequently, accumulation of the branched-chain amino acids and their respective branched-chain α-keto acids in fluids and the tissue. MSUD clinical symptoms include neurological alterations. KIC is considered one of the significant neurotoxic metab olites since its increased plasma concentrations are associated with neurological symptoms. We evaluated the effect of KIC intracerebroventricular (ICV) injection in hippocampal mitochondria function in rats. ...
Source: Metabolic Brain Disease - Category: Neurology Source Type: research
Metabolic reprogramming is associated with re/activation and antagonism of androgen receptor (AR) signaling that drives prostate cancer (PCa) progression to castration resistance, respectively. In particular, AR signaling influences the fates of citrate that uniquely characterizes normal and malignant prostatic metabolism (i.e., mitochondrial export and extracellular secretion in normal prostate, mitochondrial retention and oxidation to support oxidative phenotype of primary PCa, and extra-mitochondrial interconversion into acetyl-CoA for fatty acid synthesis and epigenetics in the advanced PCa). The emergence of castratio...
Source: Frontiers in Oncology - Category: Cancer & Oncology Source Type: research
Cell Death &Disease, Published online: 09 October 2020; doi:10.1038/s41419-020-03062-zMitochondrial ClpP serine protease-biological function and emerging target for cancer therapy
Source: Cell death and disease - Category: Internal Medicine Authors: Source Type: research
Publication date: Available online 7 October 2020Source: MitochondrionAuthor(s): Yuma Yamada, Minako Maruyama, Tomoko Kita, Shin-ichi Usami, Shin-ichiro Kitajiri, Hideyoshi Harashima
Source: Mitochondrion - Category: Biochemistry Source Type: research
ConclusionsOur findings are compatible with the phenotypic and genetic presentation of PMPS and KSS. We present the first molecularly confirmed case reports of Colombian patients, diagnosed initially with PMPS, who later evolved to KSS.
Source: Molecular Genetics & Genomic Medicine - Category: Genetics & Stem Cells Authors: Tags: CLINICAL REPORT Source Type: research
Excitotoxicity induced by NMDA receptors (NMDARs) is thought to be intimately linked to high intracellular calcium load. Unexpectedly, NMDAR-mediated toxicity can be eliminated without affecting NMDAR-induced calcium signals. Instead, excitotoxicity requires physical coupling of NMDARs to TRPM4. This interaction is mediated by intracellular domains located in the near-membrane portions of the receptors. Structure-based computational drug screening using the interaction interface of TRPM4 in complex with NMDARs identified small molecules that spare NMDAR-induced calcium signaling but disrupt the NMDAR/TRPM4 complex. These i...
Source: ScienceNOW - Category: Science Authors: Tags: Neuroscience, Online Only r-articles Source Type: news
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