Misfolded proteins in the central nervous system can induce oxidative damage, which can
contribute to neurodegenerative diseases in the mitochondria. Neurodegenerative patients …

Mitochondrial DNA (mtDNA) is predominately uniparentally transmitted. This results in
organisms with a single type of mtDNA (homoplasmy), but two or more mtDNA haplotypes …

Mitochondrial DNA (mtDNA) variant pathogenicity interpretation has special considerations
given unique features of the mtDNA genome, including maternal inheritance, variant …

Mitochondrial disorders are monogenic disorders characterized by a defect in oxidative
phosphorylation and caused by pathogenic variants in one of over 340 different genes. The …

Mitochondria are eukaryotic organelles known best for their roles in energy production and
metabolism. While often thought of as simply the 'powerhouse of the cell,'these organelles …

Glaucoma is a sight threatening neurodegenerative condition of the optic nerve head
associated with ageing and marked by the loss of retinal ganglion cells. Mitochondrial …

Mitochondrial diseases are a genetically and phenotypically variable set of monogenic
disorders. The main characteristic of mitochondrial diseases is a defective oxidative …

Mitochondrial diseases collectively represent the most common cause of inherited metabolic
disease. They are estimated to affect at least 1 in 8,000 adults and at least 1 in 250 adults …

Mitochondrial diseases (MD) are rare disorders caused by deficiency of the mitochondrial
respiratory chain, which provides energy in each cell. They are characterized by a high …

ABSTRACT Introduction Primary mitochondrial diseases (PMDs) comprise a large and
heterogeneous group of genetic diseases that result from pathogenic variants in either …