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Exploring mitochondrial heteroplasmy in neonates: implications for growth patterns and overweight in the first years of life
BackgroundMitochondrial heteroplasmy reflects genetic diversity within individuals due to the presence of varying mitochondrial DNA (mtDNA)...
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Assessment of the bi-directional relationship between blood mitochondrial DNA copy number and type 2 diabetes mellitus: a multivariable-adjusted regression and Mendelian randomisation study
Aims/hypothesisMitochondrial dysfunction, which can be approximated by blood mitochondrial DNA copy number (mtDNA-CN), has been implicated in the...
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Dissecting the genetic overlap between severe mental disorders and markers of cellular aging: Identification of pleiotropic genes and druggable targets
Patients with severe mental disorders such as bipolar disorder (BD), schizophrenia (SCZ) and major depressive disorder (MDD) show a substantial...
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Next-generation sequencing and comprehensive data reassessment in 263 adult patients with neuromuscular disorders: insights into the gray zone of molecular diagnoses
BackgroundNeuromuscular disorders (NMDs) are heterogeneous conditions with a considerable fraction attributed to monogenic defects. Despite the...
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l-carnitine modulates free mitochondrial DNA DAMPs and platelet storage lesions during storage of platelet concentrates
Platelet storage lesions may occur in Platelet concentrates (PCs) storage time, reducing PCs' quality. Mitochondrial damage causes mitochondrial DNA...
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Association between the peripartum maternal and fetal telomere lengths and mitochondrial DNA copy numbers and preeclampsia: a prospective case–control study
PurposeTo explore changes in telomere length (TL) and mitochondrial copy number (mtDNA-CN) in preeclampsia (PE) and to evaluate the combined effect...
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Challenges in the recovery of the genetic data from human remains found on the Western Balkan migration route
Traditional DNA-based identification of human remains relies on the system of matching STR profile of the deceased with the family references or...
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Comparison of the optimal and suboptimal quantity of mitotype libraries using next-generation sequencing
Optimizing analysis parameters and sample input is crucial in forensic genetics methods to generate reliable results, and even more so when working...
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Wide diagnostic and genotypic spectrum in patients with suspected mitochondrial disease
BackgroundMitochondrial Diseases (MDs) are a diverse group of neurometabolic disorders characterized by impaired mitochondrial oxidative...
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Two-stage association study of mitochondrial DNA variants in allergic rhinitis
BackgroundCorrelations between mitochondrial DNA (mtDNA) and allergic rhinitis (AR) have not been reported before. This study aimed to better...
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Annexin A1 protects epidermal stem cells against ultraviolet-B irradiation-induced mitochondrial dysfunction
Ultraviolet-B (UV-B) radiation overexposure causes function impairment of epidermal stem cells (ESCs). We explored the mechanism of Annexin A1...
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Maternal Serum Vitamin E Levels and its Association with Cord Blood Telomere Length and Mitochondrial DNA Copy Number in Preterm Premature Rupture of Membranes
Background and ObjectiveOxidative stress is one of the pathophysiological factors of pPROM and Vit. E being antioxidant may have preventive role....
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The Evaluation of Mass/DNA Copy Number of Mitochondria in Umbilical Cord Blood-derived Hematopoietic Stem Cells Cocultured with MSCs
Over recent decades, UCB has been widely used as an excellent alternative source of HSCs for treating many hematologic disorders. Recent studies...
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Association between single nucleotide polymorphism of rs1937 in TFAM gene and longevity among the elderly Chinese population: based on the CLHLS study
BackgroundTo investigate whether the mitochondrial transcription factor A (TFAM) rs1937 single nucleotide polymorphism (SNP) is associated with...
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Resveratrol ameliorates mitochondrial biogenesis and reproductive outcomes in women with polycystic ovary syndrome undergoing assisted reproduction: a randomized, triple-blind, placebo-controlled clinical trial
BackgroundThis study was designed to examine the effect of resveratrol on mitochondrial biogenesis, oxidative stress (OS), and assisted reproductive...
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A model to predict a risk of allergic rhinitis based on mitochondrial DNA copy number
PurposeTo determine whether mitochondrial DNA copy number (mtDNA-CN) is associated with allergic rhinitis (AR), and further establish a nomogram...
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Association between mitochondrial DNA haplogroups J and K, serum branched-chain amino acids and lowered capability for endurance exercise
BackgroundEndurance exercise training promotes the catabolism of branched-chain amino acids (BCAAs) in skeletal muscles. We have previously shown...
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Single nucleotide polymorphism genes and mitochondrial DNA haplogroups as biomarkers for early prediction of knee osteoarthritis structural progressors: use of supervised machine learning classifiers
BackgroundKnee osteoarthritis is the most prevalent chronic musculoskeletal debilitating disease. Current treatments are only symptomatic, and to...
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Exploring statistical weight estimates for mitochondrial DNA matches involving heteroplasmy
Massively parallel sequencing (MPS) of mitochondrial (mt) DNA allows forensic laboratories to report heteroplasmy on a routine basis. Statistical...
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Mitochondrial disorders as a mechanism for the development of obese Sarcopenia
Obese sarcopenia is a severe and prevalent disease in an aging society. Compared to sarcopenia alone, the development and advanced stage of obesity...
