Researchers identify a novel genetic cause of a rare mitochondrial disorder, revealing mechanisms for improved diagnosis and treatment Peer-Reviewed Publication Juntendo University Research Promotion Center image: Identifying MICOS10 variants enhances our understanding of mitochondrial function and genetic diagnosis in rare diseasesview more Credit: Yasushi Okazaki from Juntendo University, Japan Mitochondrial DNA depletion syndrome (MTDPS) is a rare genetic...
Tag: <span>Mitochondrial DNA</span>
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Mitochondrial DNA study offers several new findings, reveals confounding factor in previous research
Pervasive nuclear genetic control over common mtDNA heteroplasmies. a, Quality control (QC)-passing mtDNA heteroplasmies in UKB and AoU. From the inside: mtDNA positions of poly-C tracts; genomic annotations (orange, HVR; yellow, rRNA genes; blue, tRNA genes; purple, coding genes); heteroplasmic SNV counts (red); heteroplasmic indel counts (black). The teal arc region is the focus of...
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New findings show mitochondrial DNA fragments in blood as important biomarkers for aging and inflammation
JOHNS HOPKINS MEDICINE In an eight-year study of more than 600 community-dwelling older adults, Johns Hopkins Medicine researchers say they have further linked levels of cell-free DNA (DNA fragments resulting from cell death) circulating in the blood to chronic inflammation and frailty. The study is novel and expands on previous work, the investigators say, because...
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Scientists find surprising link between mitochondrial DNA and increased atherosclerosis risk
SALK INSTITUTE IMAGE: GERALD SHADEL CREDIT: SALK INSTITUTE LA JOLLA— (July 26, 2022) Mitochondria are known as cells’ powerhouses, but mounting evidence suggests they also play a role in inflammation. Scientists from the Salk Institute and UC San Diego published new findings in Immunity on July 26, 2022, where they examined human blood cells and discovered a...
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OPTN-ATG9 interaction accelerates autophagic degradation of ubiquitin-labeled mitochondria
TOKYO METROPOLITAN INSTITUTE OF MEDICAL SCIENCE DAMAGED MITOCHONDRIA ARE SELECTIVELY ELIMINATED VIA AUTOPHAGY CALLED MITOPHAGY. IN MAMMALIAN CELLS, UBIQUITIN CHAINS ON THE DAMAGED MITOCHONDRIA PLAY CRITICAL ROLES TO INDUCE MITOPHAGY. Researchers at TMIMS have revealed that PINK1 (a serine/threonine kinase) and Parkin (a ubiquitin ligating enzyme: E3) work together to ubiquitylate the outer membrane proteins...
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Tracking inheritance of human mitochondrial DNA
This news or article is intended for readers with certain scientific or professional knowledge in the field. New insight into how genetic information stored in human mitochondria is passed from one generation to the next could have important implications for genetic counseling of women planning pregnancies, according to a study by researchers at Penn State...
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Mitochondrial mutations and disease
Mitochondria are cellular organelles with their own DNA. Their role in power generation makes them susceptible to oxidative damage, including the formation of DNA-damaging chemical complexes called adducts. While one such adduct, M1dG, is normally excised by cells from the genomic DNA, mitochondria apparently lack this repair mechanism. This month in the journal Nucleic Acids Research,...
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How incurable mitochondrial diseases strike previously unaffected families
Mitochondrial DNA. Researchers have shown for the first time how children can inherit a severe – potentially fatal – mitochondrial disease from a healthy mother. The study, led by researchers from the MRC Mitochondrial Biology Unit at the University of Cambridge, reveals that healthy people harbour mutations in their mitochondrial DNA and explains how cases...