98%
921
2 minutes
20
Background: Diabetes induces many complications including reduced fertility and low oocyte quality, but whether it causes increased mtDNA mutations is unknown.
Methods: We generated a T2D mouse model by using high-fat-diet (HFD) and Streptozotocin (STZ) injection. We examined mtDNA mutations in oocytes of diabetic mice by high-throughput sequencing techniques.
Results: T2D mice showed glucose intolerance, insulin resistance, low fecundity compared to the control group. T2D oocytes showed increased mtDNA mutation sites and mutation numbers compared to the control counterparts. mtDNA mutation examination in F1 mice showed that the mitochondrial bottleneck could eliminate mtDNA mutations.
Conclusions: T2D mice have increased mtDNA mutation sites and mtDNA mutation numbers in oocytes compared to the counterparts, while these adverse effects can be eliminated by the bottleneck effect in their offspring. This is the first study using a small number of oocytes to examine mtDNA mutations in diabetic mothers and offspring.
Download full-text PDF |
Source |
---|---|
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6215660 | PMC |
http://dx.doi.org/10.1186/s12958-018-0423-1 | DOI Listing |
Metabolomics
September 2025
Laboratoire de Biochimie et Biologie Moléculaire, Centre Hospitalier Universitaire, Angers, France.
Introduction: The definition of Leber's hereditary optic neuropathy (LHON) does not take into account a preclinical phase during which the thickness of retinal nerve fiber layer (RNFL) is increased, prior to optic nerve atrophy, reducing the chances of visual recovery.
Objectives: Search for a metabolomic signature characterizing this preclinical phase and identify biomarkers predicting the risk of LHON onset.
Methods And Results: The blood and tear metabolomic profiles of 90 asymptomatic LHON mutation carriers followed for one year will be explored as a function of RNFL thickness and compared to those of a healthy control.
Environ Mol Mutagen
September 2025
Department of Biology, University of Ottawa, Ottawa, Ontario, Canada.
Long-duration spaceflight exposes astronauts to various stressors that can alter human physiology, potentially causing immediate and long-term health effects. These stressors can damage biomolecules, cells, tissues, and organs, leading to adverse outcomes. Developing adverse outcome pathways (AOPs) relevant to radiation exposure can guide research priorities and inform risk assessments of future space exploration activities.
View Article and Find Full Text PDFJ Mol Biol
September 2025
University of South Alabama, Department of Physiology and Cell Biology, 5851 USA Dr. North, Mobile, AL 36688, USA. Electronic address:
In sexually reproducing eukaryotes-particularly mammals-mitochondrial DNA (mtDNA) is typically inherited from a single parent, making uniparental mtDNA inheritance a fundamental feature of eukaryotic biology. Recently, it has been suggested that spermatozoa contain no mtDNA because the matrix targeting sequence (MTS) of the mitochondrial transcription factor A (TFAM) becomes phosphorylated, which prevents the mitochondrial import of this protein essential for mtDNA replication. In this study, we used a combination of the GeneSwap technique and phosphomimetic mutations to investigate the impact of TFAM MTS phosphorylation on mtDNA maintenance in cultured cells.
View Article and Find Full Text PDFFront Pediatr
August 2025
Department of Ophthalmology, Peking University People's Hospital, Beijing, China.
Background: The m.3243A>G mutation in the MT-TL1 gene is the most common mtDNA mutation. The mutation can lead to a spectrum of conditions, including diabetes, hearing loss, heart and muscle involvement, encephalopathy and epilepsy, gastrointestinal problems, and vision impairment, often occurring concurrently-collectively referred to as MELAS (mitochondrial encephalopathy lactic acidosis and stroke-like episodes) syndrome.
View Article and Find Full Text PDFJ Affect Disord
September 2025
Department of Psychiatry, The Affiliated Kangning Hospital of Ningbo University, Ningbo Kangning Hospital, Ningbo, China; Medical Center, Ningbo University, Ningbo, China. Electronic address:
Objective: This study aimed to identify potential mutations associated with major depressive disorder (MDD) and evaluate disease-associated risk factors.
Methods: Total genomic DNAwas extracted from the participants' blood samples, and the complete mitochondrial genome wasamplified by PCR, purified, and sequenced. Mutation burden analysis and functional mutation analysis was performed, including total mutation counts, highly conserved mutations (Conservation Index >75 %), and structurally disruptive mutations.