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Background: Variants in the mitochondrial genome (mtDNA) cause a diverse collection of mitochondrial diseases and have extensive phenotypic overlap with Mendelian diseases encoded on the nuclear genome. The mtDNA is often not specifically evaluated in patients with suspected Mendelian disease, resulting in overlooked diagnostic variants.
Methods: Using dedicated pipelines to address the technical challenges posed by the mtDNA - circular genome, variant heteroplasmy, and nuclear misalignment - single nucleotide variants, small indels, and large mtDNA deletions were called from exome and genome sequencing data, in addition to RNA-sequencing when available.
Mitochondrial damage causes inflammation via cGAS-STING signaling in ketamine-induced cystitis.
Inflamm Res
January 2025
Department of Urology, The First Affiliated Hospital of Guangxi Medical University, Guangxi Zhuang Autonomous Region, Nanning, Guangxi, China.
Background: Mitochondrial dysfunction and damage can result in the release of mitochondrial DNA (mtDNA) into the cytoplasm, which subsequently activates the cGAS-STING pathway, promoting the onset of inflammatory diseases. Various factors, such as oxidative stress, viral infection, and drug toxicity, have been identified as inducers of mitochondrial damage. This study aims to investigate the role of mtDNA as a critical inflammatory mediator in the pathogenesis of ketamine (KET)-induced cystitis (KC) through the cGAS-STING pathway.
View Article and Find Full Text PDFCobalt chloride-mimicked hepatocyte cell hypoxia induces TREX1 leading to Hepatitis B virus restriction.
J Infect Dis
January 2025
Institut Pasteur, Université de Paris Cité, Virus and Cellular Stress Unit, Department of Virology, Paris, France.
Background: Restriction factors are host cell proteins that play a role in limiting virus replication. They form part of the intrinsic immune system and function as a first line of defense against viral infections. Hepatitis B virus (HBV) does not escape this rule and TREX1, a host restriction enzyme acts as an antiviral factor, leading to the inhibition of the virus.
View Article and Find Full Text PDFDNA binding of an RNA helicase bacterial transcription terminator.
Biochem J
January 2025
Centre for DNA Fingerprinting and Diagnostics, Hyderabad, India.
The bacterial transcription terminator Rho is a hexameric ATP-dependent RNA helicase that dislodges elongating RNA polymerases. It has an N-terminal primary RNA binding site (PBS) on each subunit and a C-terminal secondary RNA binding site at the central channel. Here, we show that Rho also binds to linear longer double-stranded DNAs (dsDNA) and the circular plasmids non-specifically using its PBS.
View Article and Find Full Text PDFAn obligate anaerobic, Gram-negative rod-shaped bacterial strain designated AD58 was isolated from the feces of a 3-year-old boy with atopic dermatitis. The closest species is Parabacteroides fecalis with 96.98% 16S rRNA gene identity.
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