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Mitochondrial disease information


Mitochondrial disease
Other namesMitochondrial cytopathy; mitochondriopathy (MCP)
Micrograph showing ragged red fibers, a finding seen in various types of mitochondrial diseases. Muscle biopsy. Gomori trichrome stain.
SpecialtyMedical genetics

Mitochondrial disease is a group of disorders caused by mitochondrial dysfunction. Mitochondria are the organelles that generate energy for the cell and are found in every cell of the human body except red blood cells. They convert the energy of food molecules into the ATP that powers most cell functions.

Mitochondrial diseases take on unique characteristics both because of the way the diseases are often inherited and because mitochondria are so critical to cell function. A subclass of these diseases that have neuromuscular symptoms are known as mitochondrial myopathies.

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Mitochondrial disease

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Mitochondrial disease is a group of disorders caused by mitochondrial dysfunction. Mitochondria are the organelles that generate energy for the cell and...

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Mitochondrion

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been implicated in several human disorders and conditions, such as mitochondrial diseases, cardiac dysfunction, heart failure and autism. The number of mitochondria...

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Mitochondrial DNA depletion syndrome

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Mitochondrial DNA depletion syndrome (MDS or MDDS), or Alper's disease, is any of a group of autosomal recessive disorders that cause a significant drop...

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Human mitochondrial genetics

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sustaining life. The mitochondrial diseases are genetic disorders carried in mitochondrial DNA, or nuclear DNA coding for mitochondrial components. Slight...

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Mitochondrial DNA

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haplogroup Human mitochondrial genetics Mitochondrial disease Mitochondrial DNA (journal) Mitochondrial Eve Mitochondrial rCRS Paternal mtDNA transmission Single...

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Mitochondrial myopathy

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Mitochondrial myopathies are types of myopathies associated with mitochondrial disease. Adenosine triphosphate (ATP), the chemical used to provide energy...

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MELAS syndrome

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Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) is one of the family of mitochondrial diseases, which also include MIDD...

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Green ribbon

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variety of symbolic meanings. Mitochondrial disease awareness is represented by a green ribbon. Mitochondrial disease (mito) is a debilitating genetic...

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Leigh syndrome

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Mutations in mitochondrial DNA (mtDNA) and over 30 genes in nuclear DNA (gene SURF1 and some COX assembly factors) have been implicated in Leigh disease. Disorders...

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Mitochondrial replacement therapy

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or ameliorate disease. MRT originated as a special form of in vitro fertilisation in which some or all of the future baby's mitochondrial DNA (mtDNA) comes...

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Neurodegenerative disease

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encephalopathy, also called mad cow disease. The greatest risk factor for neurodegenerative diseases is aging. Mitochondrial DNA mutations as well as oxidative...

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Mitochondrial ribosome

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Mougey EB, O'Brien TW (March 2003). "Mitochondrial ribosomal proteins: candidate genes for mitochondrial disease". Genetics in Medicine. 6 (2): 73–80...

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Disease

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Environmental disease Host–pathogen interaction Lists of diseases Mitochondrial disease Philosophy of medicine Plant pathology Rare disease, a disease that affects...

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Genocopy

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is Mitochondrial Disease?". United Mitochondrial Disease Foundation (UMDF). 14 January 2016. Saneto RP (2017). Genetics of Mitochondrial Disease. Advances...

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Heteroplasmy

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genome (mitochondrial DNA or plastid DNA) within a cell or individual. It is an important factor in considering the severity of mitochondrial diseases. Because...

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MERRF syndrome

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MERRF syndrome (or myoclonic epilepsy with ragged red fibers) is a mitochondrial disease. It is extremely rare, and has varying degrees of expressivity owing...

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ALS

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Amyotrophic lateral sclerosis (ALS), also known as motor neurone disease (MND) or Lou Gehrig's disease in the United States, is a rare but terminal neurodegenerative...

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Metabolic disorder

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error of metabolism Mitochondrial diseases Phosphorus metabolism disorders Porphyrias Proteostasis deficiencies Metabolic skin diseases Wasting syndrome...

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Mitochondrial neurogastrointestinal encephalopathy syndrome

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Mitochondrial neurogastrointestinal encephalopathy syndrome (MNGIE) is a rare autosomal recessive mitochondrial disease. It has been previously referred...

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Dysautonomia

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pressure support mode in a patient with autonomic dysfunction and mitochondrial disease". Journal of Clinical Sleep Medicine. 17 (4): 853–857. doi:10.5664/jcsm...

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Inborn errors of metabolism

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of mitochondrial function Kearns–Sayre syndrome Disorders of peroxisomal function Zellweger syndrome Lysosomal storage disorders Gaucher's disease Niemann–Pick...

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Sengers syndrome

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Sengers syndrome is a rare autosomal recessive mitochondrial disease characterised by congenital cataract, hypertrophic cardiomyopathy, muscle weakness...

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Pearson syndrome

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Pearson syndrome is a mitochondrial disease characterized by sideroblastic anemia and exocrine pancreas dysfunction. Other clinical features are failure...

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Chorea

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iron accumulation disorders, Wilson's disease, benign hereditary chorea, Friedreich's ataxia, mitochondrial disease and Rett syndrome. The most common acquired...

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Creatine

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immobilization. Creatine's impact on mitochondrial function has led to research on its efficacy and safety for slowing Parkinson's disease. As of 2014, the evidence...

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Genetic disorder

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neuropathy. It is important to stress that the vast majority of mitochondrial diseases (particularly when symptoms develop in early life) are actually...

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Conditions comorbid to autism spectrum disorders

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part, due to the unclear distinction between mitochondrial disease and dysfunction. Mitochondrial diseases are difficult to diagnose and have become better...

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