MITOchondrial DYNamics variation portal
The ACO2 gene homepage – Variation OPA1 mutation database
Comparative Evaluation of Fast Check and Enzyme Linked Immunosorbent Assay for Screening of Blood Donors for Hepatitis B Floor Antigen Seropositivity Background: The Hepatitis B floor Antigen (HBsAg) is essentially the most utilized indicator marker of hepatitis B an infection. This research assesses the accuracy of the 2 commonest screening assays used to detect HBsAg amongst blood donors. Supplies and… Continue reading
Analysis of fast antigen exams primarily based on saliva for the detection of SARS-CoV-2 Fast identification and isolation of with SARS-CoV-2 contaminated people is essential. Current research have proven that RT-PCR from self-collected saliva is an acceptable various to nasopharyngeal swab. A drawback of RT-PCR leading to a very long time till outcome which can be problematic. To… Continue reading
The UKBiobank is a prospective cohort study including approximately 500,000 UK residents (ages 40-69 years) recruited from 2006-2010 in whom extensive genetic and phenotypic investigations have been and continue to be done. All analyses involve the use of genetic : Phenotypic data from consenting UKBiobank participants. To benchmark performance of AutoMitoC, Array-based mtDNA-CN estimates were… Continue reading
Mitochondrial sequences Detailed sample and variant quality control are described in the supplementary methods. In special consideration of mtDNA-CN as the GWAS phenotype, we also removed variants within “NUMTs”, which refer to regions of the nuclear genome that exhibit homology to the mitochondrial genome Due to past transposition of mitochondrial sequences. After quality control, 359,689… Continue reading
To interrogate mtDNA-CN as a potential determinant of human diseases, we performed extensive genetic investigations in up to 395,781 participants from the UKBiobank study. We first developed and validated a novel method for biobank-scale mtDNA-CN investigations that leverages SNP array intensities, called “AutoMitoC”. Various analyses were then conducted to build on previous publications regarding the… Continue reading
While previous studies demonstrate that mtDNA-CN is a biomarker of mitochondrial activity associated with various diseases, evidence suggests that it may also play a direct and causative role in human health and disease. Forle, in cases of mtDNA depletion syndrome, wherein rare defects in nuclear genes responsible for replicating and/or maintainingNA lead to deficient mtDNA-CN.… Continue reading
Mitochondria are semi-autonomous organelles present in nearly every human cell that execute fundamental cellular processes including oxidative phosphorylation, calcium storage, and apoptotic signalling. Mitochondrial dysfunction has been implicated as the underlying cause for many human disorders based on mechanistic in vitro and in vivo studies . Complementary evidence comes from recent epidemiological studies that measure mitochondrial DNA Copy Number… Continue reading