Mitochondrial DNA (mtDNA) mutations are a relatively common cause of progressive disorders that can be severe or even life-threatening. There is currently no cure for these disorders; therefore recent research has been focused on attempting to prevent the transmission of these maternally inherited mutations. Here we highlight the challenges of understanding the transmission of mtDNA diseases, discuss current genetic management options and explore the use of germ-line reconstruction technologies to prevent mtDNA diseases. In particular we discuss their potential, indications, limitations and possible safety concerns.
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http://dx.doi.org/10.1093/molehr/gau082 | DOI Listing |
Nat Commun
January 2025
Department of Biological Sciences, Dedman College of Humanities and Sciences, Southern Methodist University, Dallas, TX, 75275, USA.
The 40S ribosomal subunit recycling pathway is an integral link in the cellular quality control network, occurring after translational errors have been corrected by the ribosome-associated quality control (RQC) machinery. Despite our understanding of its role, the impact of translation quality control on cellular metabolism remains poorly understood. Here, we reveal a conserved role of the 40S ribosomal subunit recycling (USP10-G3BP1) complex in regulating mitochondrial dynamics and function.
View Article and Find Full Text PDFAm J Pathol
January 2025
Department of Pathology, Brigham and Women's Hospital and Harvard Medical School, Boston, MA.
Alzheimer's disease (AD) is the most common type of dementia and one of the leading causes of death in elderly patients. The number of patients with AD in the United States is projected to double by 2060. Thus, understanding modifiable risk factors for AD is an urgent public health priority.
View Article and Find Full Text PDFJ Mol Diagn
January 2025
Department of Cardiology, Xinqiao Hospital, Third Military Medical University (Army Medical University), Chongqing, China. Electronic address:
Previous studies have reported that mtDNA-CN of blood was associated with a series of aging-related diseases. However, it remains unknown whether mtDNA-CN can be a potential biomarker of acute aortic syndromes (AAS). The mtDNA-CN in blood of 190 male patients with AAS and 207 healthy controls were detected by standardized qPCR-based assay.
View Article and Find Full Text PDFTuberculosis (Edinb)
January 2025
Latvian Biomedical Research and Study Centre, Ratsupites street 1, k-1, Riga, LV-1067, Latvia; Riga Stradiņš University, Pharmacogenetic and Precision Medicine Laboratory, Konsula street 21, Riga, LV-1007, Latvia. Electronic address:
Biomarker research characterising the effect of anti-tuberculosis (TB) chemotherapy on systemic body response is still limited. In this study, we aimed to investigate fluctuations in circulating cell-free mitochondrial DNA (ccf-mtDNA) and circulating cell-free nuclear DNA (ccf-nDNA) copy number (CN) in blood plasma of patients with drug-susceptible TB (DS-TB) and to decipher factors related to these fluctuations. The results showed considerable changes in ccf-mtDNA CN in plasma samples before drug intake and 2 and 6 h afterwards, with high inter patient variability at each time point.
View Article and Find Full Text PDFClin Exp Pharmacol Physiol
March 2025
Department of Endocrinology, The Second Affiliated Hospital of Heilongjiang University of Chinese Medicine, Harbin, People's Republic of China.
Isoferulic acid (IA), a derivative of cinnamic acid, is derived from Danshen and exhibits anticancer properties by disrupting cancer cell activities. However, its role in pancreatic cancer, the "king of cancer", was unknown. In this study, pancreatic cancer cells were subjected to treatment with IA (6.
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