Rational: Despite maternal transmission of hypertension in some pedigrees, pathophysiology of maternally inherited hypertension remains poorly understood. Objective: To establish a causative link between mitochondrial dysfunction and essential hypertension. Method and Results: A total of 106 subjects from a large Chinese family underwent clinical, genetic, molecular, and biochemical evaluations...

Pathogenic point mutations in mitochondrial tRNA genes are known to cause a variety of human mitochondrial diseases. Reports have associated an A4317G mutation in the mitochondrial tRNA(Ile) gene with fatal infantile cardiomyopathy and an A10044G mutation in the mitochondrial tRNA(Gly) gene with sudden infant death syndrome. Here we demonstrate that both mutations inhibit in vitro CCA-addition ...

INTRODUCTION Numerous pathogenic mutations responsible for mitochondrial diseases have been identified in mitochondrial DNA (mtDNA)-encoded tRNA genes. In most cases, however, the detailed molecular pathomechanisms and cellular pathophysiology of these mtDNA mutations -how such genetic defects determine the variation and the severity of clinical symptoms in affected individuals- remain unclear....

Human Mitochondrial Leucyl-tRNA Synthetase Corrects Mitochondrial Dysfunctions Due to the tRNA A3243G Mutation, Associated with Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Symptoms and Diabetes Ronghua Li and Min-Xin Guan* Division of Human Genetics, Cincinnati Children’s Hospital Medical Center, Cincinnati, Ohio, and Department of Pediatrics, University of Cincinnati Coll...

Most assassin bugs are predators that act as important natural enemies of insect pests. Mitochondrial (mt) genomes of these insects are double-strand circular DNAs that encode 37 genes. In the present study, we explore the duplication and rearrangement of tRNA genes in the mt genome of Reduvius tenebrosus, the first mt genome from the subfamily Reduviinae. The gene order rearranges from CR (con...

OBJECTIVES To confirm the pathogenicity of the G-to-A substitution at nucleotide 1606 (G1606A) mutation in the mitochondrial DNA (mtDNA) tRNA(Val) gene, and to characterize genotype-phenotype correlation. PATIENT AND METHODS A 37-year-old man since childhood developed a complex clinical picture characterized by hearing loss, migraine, ataxia, seizures, cataracts, retinitis pigmentosa, mental ...

The A3243G mutation within the human mitochondrial (hs mt) tRNALeuUUR gene is associated with maternally inherited deafness and diabetes (MIDD) and other mitochondrial encephalopathies. One of the most pronounced structural effects of this mutation is the disruption of the native structure through stabilization of a high-affinity dimeric complex. We conducted a series of studies that address th...

Abstract Background Mutations in the mitochondrial transfer RNA (mt-tRNA) gene are a hotspot for DNA (mtDNA) mutations and most common diseases. Methods We identified mt-tRNA 5816 A > G (m.5816 G) mutation 3-year-old child with dystonia who died. performed clinical evaluation, genetic analysis, biochemical investigation function testing. Results Our patient was found to have hyperlactatemia....

BACKGROUND Colorectal cancer is the third most common type of cancer in men and women and the second leading cause of cancer-related deaths in the United States and UK. Colorectal cancer is strongly related to age, with almost three-quarters of cases occurring in people aged 65 or over. Pre-symptomatic screening is one of the most powerful tools for preventing colorectal cancer. Recently, the u...

Background Atherosclerosis is a disease that affects large and medium size arteries in the body that underlies coronary heart disease. Several nucleotide changes in mitochondrial tRNA genes have been reported in various diseases. The purpose of the study was to identify hotspot mitochondrial tRNA mutations in atherosclerotic patients. Methods In this case-control study, the variations of ten ...