Methylenetetrahydrofolate (MTHFR) and DNMT3b play imperative roles in DNA synthesis and de novo methylation. GSTM1 is involved in detoxification of carcinogens. Mitochondrial DNA deletion has been associated with lower motility in human sperm. We analysed if polymorphisms in MTHFR (C677T and A1298C) and DNMT3b (C46359T) are associated with non-obstructive male infertility. We also analysed if f...

BACKGROUND Coronary artery disease is associated with a common mitochondrial DNA alteration, a 4977 bp deletion (mtDNA4977). The role of mtDNA4977 in ischemic stroke is unknown. METHODS Real-time quantitative PCR was performed to quantify total mtDNA and mtDNA4977 in leukocytes in 283 ischemic stroke cases and 135 controls. Ratios of mtDNA4977 to total-mtDNA and total-mtDNA to nuclear-DNA wer...

Specific deletions in mitochondrial DNA (mtDNA) are present at high levels in skeletal muscle and other tissues (7). It has been suggested that an accumulation of these somatic deletions could be caused by oxidative damage that increases with age (2). In recent years, more than 20 different types of deletions have been identified using polymerase chain reaction (PCR) techniques (16). The most f...

Genes in the 16.6 kb human mitochondrial DNA (mtDNA) are concerned exclusively with bioenergy production. Mutations in mtDNA can, therefore, lead to bioenergy decline and so contribute to various age-related degenerative diseases and even to 'natural' ageing (1-3). Large deletions in mtDNA occur in tissues of patients with mitochondrial myopathies and also occur in normal ageing, particularly i...