A5056991878- Mitochondrial Function and Pathology
- Metabolism and Genetic Disorders
- ATP Synthase and ATPases Research
- Metabolomics and Mass Spectrometry Studies
- Cardiac Valve Diseases and Treatments
- Photosynthetic Processes and Mechanisms
- RNA and protein synthesis mechanisms
- Cardiovascular Function and Risk Factors
- Cardiac, Anesthesia and Surgical Outcomes
- Genomics and Phylogenetic Studies
- Genetic Neurodegenerative Diseases
- Forensic and Genetic Research
- Cardiac Structural Anomalies and Repair
- Mechanical Circulatory Support Devices
- Molecular Biology Techniques and Applications
- Cardiac Ischemia and Reperfusion
- Drug-Induced Ocular Toxicity
- DNA Repair Mechanisms
- Evolution and Genetic Dynamics
- Estrogen and related hormone effects
- Cardiac Arrest and Resuscitation
- Cardiac Imaging and Diagnostics
- Menopause: Health Impacts and Treatments
- RNA modifications and cancer
- Alzheimer's disease research and treatments
NIHR Surgical Reconstruction and Microbiology Research Centre
2008-2024
The Edgbaston Hospital
2011-2019
University of Birmingham
2008-2019
Queen Elizabeth Hospital Birmingham
2009-2019
Galveston College
1994-2019
University Hospitals Birmingham NHS Foundation Trust
2005-2018
E Ink (South Korea)
2018
Papworth Hospital NHS Foundation Trust
2015
University Hospital Coventry
2013
Royal Sussex County Hospital
2013
Many patients with inherited mitochondrial encephalopathies have one of two pathogenic mutations DNA (mtDNA): A3243G or A8344G. Individuals who harbour these carry both mutant and wild-type alleles within each cell (heteroplasmy). Despite clear evidence a direct relationship between the level mutation respiratory chain function in vitro, it has been more difficult to demonstrate correlation clinical phenotype mtDNA vivo. To address this issue, we identified 245 individuals either A8344G...
Mounting evidence suggests that defects in energy metabolism contribute to the pathogenesis of Alzheimer disease (AD). Cytochrome c oxidase (CO) is kinetically abnormal, and its activity decreased brain peripheral tissue late-onset AD. CO encoded by both mitochondrial nuclear genomes. Its catalytic centers, however, are exclusively two genes, CO1 CO2 (encoding subunits I II, respectively). We searched these as well other for mutations might alter cosegregate with In present study, specific...
A patient with a mitochondrial myopathy and biochemically proven profound complex I deficiency has new mutation in mtDNA. This A-to-G transition at position 3302, involving the aminoacyl stem of tRNA(Leu(UUR)), is associated abnormal RNA processing. Northern analysis demonstrates marked accumulation polycistronic precursor containing sequence for 16 S rRNA, ND1. Comparison skeletal muscle skin fibroblasts suggests that processing error may be quantitatively less severe this tissue,...
Leber's hereditary optic neuropathy (LHON) is a common cause of bilateral nerve disease. The majority LHON patients harbour one three point mutations the mitochondrial DNA (mtDNA) complex I, or NADH:ubiquinone oxidoreductase (ND) genes (G11778A in ND4, G3460A ND1, T14484C ND6). As consequence, screening for these has become part routine clinical investigation young adults who present with neuropathy, and absence interpreted as indicating there low likelihood that an LHON. However, are many...
Leber hereditary optic neuropathy (LHON) is a major cause of inherited blindness in young males. Approximately 1 7 individuals with LHON harbor mixture mutated and wild-type (normal) mtDNA (heteroplasmy), the risks developing heteroplasmic are not well characterized. MtDNA exclusively down maternal line, although relative within homoplasmic pedigree relatively established, transmission pedigrees have been studied detail. We analyzed 17 independent that most prevalent mutation: G11778A. The...