ac.uk doi:10.1038/nrg1606 MITOCHONDRIAL DNA MUTATIONS IN HUMAN DISEASE Robert W. Taylor and Doug M. Turnbull

Mitochondrial disorders may be caused by defects of nuclear DNA or mtDNA. Other disorders. GENETIC TESTING FOR MITOCHONDRIAL DISORDERS: A GUIDE FOR CLINICIANS Mitochondrial Disorders Introduction Mitochondrial disorders are a group of related, clinically diverse, genetic diseases with a prevalence of 1/5,000 to 1/8,500 that result from dysfunction of the mitochondrial respiratory All mitochondria (and all mtDNAs) in the Zygote are derived from the ovum. Mitochondrial Genetics. Mitochondrial Disorders Chenjie Xia (PGY-IV) Montreal Neurological Institute Wednesday, Jan. 25th, 2012 Outline Basic mitochondrial molecular biology Clinical ... – A free PowerPoint PPT presentation (displayed as a Flash slide show) on PowerShow.com - id: 4f9472-YjRlN Symptoms: seizures, dementia, … Mitochondrial encephalopathy, lactic acidosis and stroke-like episodes (MELAS) has recently been described in association with nephrotic syndrome, although the specific association remains somewhat obscure (Lau et al., 2007).Glomerulosclerosis and the resultant nephrotic syndrome were considered to be … Mitochondrial Diseases Dr. MUNISH KUMAR G B PANT DELHI 2. Mitochondrial diseases 1. Mitochondrial diseases in humans result when the small organelles called mitochondria, which exist in all human cells, fail to function normally. The vast phenotypic overlap with other disease entities together with the absence of reliable biomarkers act as driving forces for the integration of unbiased methodologies early in the diagnostic algorithm, such as whole exome sequencing (WES) and whole genome sequencing (WGS). Dysfunction of the respiratory chain leads to decreased energy production and to an increase in the production of toxic reactive oxygen species. • It is heterogeneous group of disorders. Mitochondria have a pivotal role in cell metabolism, being the major site of ATP production via oxidative phosphorylation (oxphos); they have a critical role in apoptotic cell death; and they also contribute to human genetics since mitochondria have a functional genome separate from that of nuclear DNA. Mitochondrial diseases are amongst the most genetically and phenotypically diverse groups of inherited diseases. • Can occur across all age groups. 1,2,3,4 Mitochondrial DNA are transmitted by maternal inheritance. Cellular organelles called mitochondria contain their own DNA. The main function of … Mitochondrial Diseases • The term ―mitochondrial cytopathy‖ refers to a diverse group of inherited or acquired disorders. Wado Akamatsu and colleagues established an impaired mitochondrial clearance detection system for familial Parkinson disease (PD) iPSC-derived neurons and identified four potential therapeutic agents. Nuclear gene defects may be inherited in an autosomal recessive manner or an autosomal dominant manner. e-mail: d.m.turnbull@ncl. They can be caused by mutation of genes encoded by either nuclear DNA or mitochondrial DNA (mtDNA). Metabolic disease - Metabolic disease - Mitochondrial disorders: The mitochondrial respiratory chain consists of five multi-subunit protein complexes that produce the majority of energy driving cellular reactions. The mitochondria contain their own mitochondrial DNA (mtDNA) separate from the cell's nuclear DNA (nDNA).