Month: September 2022

HYBRID GENETICS. "Most of the protein subunits of the mitochondrial respiratory chain are encoded by nuclear genes, while only 13, but essential, subunits are encoded by mitochondrial DNA (mtDNA). Mitochondrial energy provision thus uniquely depends on two genomes." https://lnkd.in/e9Dm5NA View in LinkedIn

HYBRID GENETICS. "Numerous nuclear and mtDNA mutations have been identified in affected patients to cause combined defects as well as isolated disorders of individual oxidative phosphorylation enzymes, including mitochondrial ATP synthase." https://lnkd.in/e9Dm5NA View in LinkedIn

WIDE PRESENTATION. "Mitochondrial dysfunction has been implicated in a host of diseases with a wide range of symptoms and molecular phenotypes, which present significant challenges to diagnosis, let alone treatment." https://lnkd.in/enMre4A View in LinkedIn

SEVERE CHILDHOOD DISEASES. "Many of these disorders affect mitochondrial ATP synthase...Defects in the structure or assembly of this crucial enzyme result in severe diseases that manifest primarily in children, often shortly after birth." https://lnkd.in/enMre4A View in LinkedIn

"DISORDERS of ATP synthase, the key enzyme of mitochondrial energy provision belong to the most severe metabolic diseases presenting as early-onset mitochondrial encephalo-cardiomyopathies." https://lnkd.in/eZHP7Rc View in LinkedIn

MITOCHONDRIAL DISEASES. "Mutations in the human mitochondrial ATP6 gene encoding ATP synthase subunit a/6...are at the base of neurodegenerative disorders like Neurogenic Ataxia and Retinitis Pigmentosa (NARP), Leigh syndrome (LS), Charcot–Marie–Tooth (CMT), and ataxia telangiectasia." https://lnkd.in/eEEix9C View in LinkedIn

MUTATIONS of ATP synthase causing human diseases. "The mitochondrial genome of humans encodes 2 subunits of the mitochondrial ATP synthase – subunits a and 8, with the remaining being encoded in the nucleus." https://lnkd.in/ed8KNUV View in LinkedIn

MUTATIONS OF ATP SYNTHASE. "The majority of mutations in the ATP synthase that are associated with disease are located in the mitochondrial ATP6 gene, which encodes subunit-a. This is likely reflective of the importance of subunit-a in the proton translocation." https://lnkd.in/ed8KNUV View in LinkedIn

STRUCTURE-FUNCTION CAUSALITY. "The Mitochondrial Permeability Transition (MPT) pore. The mitochondrial permeability transition pore plays a key role in heart disease. F-ATP synthase is the best molecular candidate for pore formation. Cyclophilin D is an important pore regulator but not a structural component. Cyclophilin inhibitors are promising but promiscuous drugs." https://lnkd.in/e5HJzaA View in LinkedIn

"MITOCHONDRIAL DYSFUNCTION has been implicated in the development of a wide spectrum of major human diseases, including diabetes mellitus, heart disorders, neurodegeneration and cancer. Several therapeutic approaches targeting mitochondrial function have been applied in most cases without however the desired outcome." https://lnkd.in/euRS6NV View in LinkedIn