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Mitochondrial disease is a group of disorders ... (apparently affecting between 1 in 30,000 and 1 in 50,000 people [5 ... and stroke-like episodes; Mitochondrial DNA ...
In most cases, people with MELAS inherit an altered mitochondrial gene from their mother. Less commonly, the disorder results from a new mutation in a mitochondrial gene and occurs in people with no family history of MELAS. [citation needed] Although first recognised and described in 1984 the condition occurred well before that date.
Mitochondrial dysfunction within peripheral nerve tissue results in symptoms including weakness of muscles, numbness, and tingling. [5] Common cardiac manifestations in MELAS syndrome include hypertrophic or dilated cardiomyopathy , arrhythmias including atrial fibrillation and ventricular tachycardia , and hypertension as a result of impaired ...
Mitochondrial myopathy literally means mitochondrial muscle disease, muscle disease caused by mitochondrial dysfunction. The mitochondrion is the primary producer of energy in nearly all cells throughout the body. The exception is mature erythrocytes (red blood cells), so that they do not use up the oxygen that they carry.
Mitochondrial encephalopathy: Metabolic disorder caused by dysfunction of mitochondrial DNA. Can affect many body systems, particularly the brain and nervous system. Acute necrotizing encephalopathy, rare disease that occurs following a viral infection. Glycine encephalopathy: A genetic metabolic disorder involving excess production of glycine.
Mutations in MT-TL1 can result in multiple mitochondrial deficiencies and associated disorders. It is associated with mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes . [5] MELAS is a rare mitochondrial disorder known to affect many parts of the body, especially the nervous system and the brain.
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 in mitochondrial DNA in affected tissues. Symptoms can be any combination of myopathic , hepatopathic , or encephalomyopathic . [ 1 ]
Mitochondrial membrane protein-associated neurodegeneration (MPAN) is a genetic neurodegenerative disease that causes dystonia, parkinsonism, and iron accumulation in the brain. [ 1 ] [ 2 ] It is caused by mutations to the gene C19orf12 , which has unknown function.