Mutations in the mitochondrial DNA cytochrome b gene (MTCYB) have been commonly associated with isolated mitochondrial myopathy and exercise intolerance, rarely with multisystem disorders, and only once with a parkinsonism/mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes (MELAS) overlap syndrome. Here, we describe a novel mutation (m.14864 T>C) in MTCYB in a 15-year-old girl with a clinical history of migraines, epilepsy, sensorimotor neuropathy, and strokelike episodes, a clinical picture reminiscent of MELAS. The mutation, which changes a highly conserved cysteine to arginine at amino acid position 40 of cytochrome b, was heteroplasmic in muscle, blood, fibroblasts, and urinary sediment from the patient but absent in accessible tissues from her asymptomatic mother. This case demonstrates that MTCYB must be included in the already long list of mitochondrial DNA genes that have been associated with the MELAS phenotype.
Download full-text PDF |
Source |
---|---|
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3973035 | PMC |
http://dx.doi.org/10.1177/0883073812445787 | DOI Listing |
Proc Natl Acad Sci U S A
January 2025
Division of Basic Science, Fred Hutchinson Cancer Center, Seattle, WA 98109.
Mx proteins, first identified in mammals, encode potent antiviral activity against a wide range of viruses. Mx proteins arose within the Dynamin superfamily of proteins (DSP), which mediate critical cellular processes, such as endocytosis and mitochondrial, plastid, and peroxisomal dynamics. Despite their crucial role, the evolutionary origins of Mx proteins are poorly understood.
View Article and Find Full Text PDFProc Natl Acad Sci U S A
January 2025
Department of Microbiology, Immunology and Cancer Biology, University of Virginia, Charlottesville, VA 22908.
Although viruses subvert innate immune pathways for their replication, there is evidence they can also co-opt antiviral responses for their benefit. The ubiquitous human pathogen, Herpes simplex virus-1 (HSV-1), encodes a protein (UL12.5) that induces the release of mitochondrial nucleic acid into the cytosol, which activates immune-sensing pathways and reduces productive replication in nonneuronal cells.
View Article and Find Full Text PDFMol Oncol
January 2025
Center for Molecular Medicine, MaineHealth Institute for Research, Scarborough, ME, USA.
Multiple myeloma (MM) is an incurable cancer of plasma cells with a 5-year survival rate of 59%. Dysregulation of fatty acid (FA) metabolism is associated with MM development and progression; however, the underlying mechanisms remain unclear. Herein, we explore the roles of long-chain fatty acid coenzyme A ligase (ACSL) family members in MM.
View Article and Find Full Text PDFToxics
December 2024
Jinan Ecological and Environmental Monitoring Center, Jinan 250104, China.
The improper disposal of plastic products/wastes can lead to the release of nanoplastics (NPs) into environmental media, especially soil. Nevertheless, their toxicity mechanisms in soil invertebrates remain unclear. This study investigated the impact of polystyrene NPs on (, 1826) immune cells, focusing on oxidative stress, immune responses, apoptosis, and necrosis.
View Article and Find Full Text PDFNeural Regen Res
December 2024
Department of Ophthalmology, The Second Norman Bethune Hospital of Jilin University, Changchun, Jilin Province, China.
The retina, a crucial neural tissue, is responsible for transforming light signals into visual information, a process that necessitates a significant amount of energy. Mitochondria, the primary powerhouses of the cell, play an integral role in retinal physiology by fulfilling the high-energy requirements of photoreceptors and secondary neurons through oxidative phosphorylation. In a healthy state, mitochondria ensure proper visual function by facilitating efficient conversion and transduction of visual signals.
View Article and Find Full Text PDFEnter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!