Mitochondrial DNA and disease
Article Abstract:
Mutations in mitochondrial DNA may cause a variety of diseases. Mitochondria are structures within cells that produce energy through oxidative phosphorylation. Mitochondria have their own DNA which is distinct from the DNA in the cell nucleus. Mitochondrial DNA mutations are maternally inherited or may develop through life at different levels in different cells. Deletions in mitochondrial DNA most commonly causes paralysis of eye muscles. Single nucleotide changes can cause nervous system disorders such as seizures, dementia, loss of muscle coordination, and partial loss of vision. Other disorders caused by mitochondrial DNA mutations include heart muscle disease, diabetes mellitus, pseudo-obstruction of the intestines, and kidney malfunction. Fewer advances have been made in the treatment of mitochondrial disease than in its diagnosis.
Publication Name: The New England Journal of Medicine
Subject: Health
ISSN: 0028-4793
Year: 1995
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A 13-year-old girl with a relapsing-remitting neurologic disorder
Article Abstract:
A 13-year-old girl was admitted to a hospital with a history of a neurologic disorder. She had a history of strokes and seizures despite taking anticonvulsant drugs. An MRI and CT scan of her brain showed abnormalities in her cortex. Because of her unusual symptoms, her physicians suspected the syndrome of mitochondrial encephalopathy, lactic acidosis and stroke-like episodes (MELAS). MELAS is caused by a defect in mitochondria, which are structures inside cells that oxidize substances produced from food. A muscle biopsy revealed evidence of MELAS. When she died at the age of 23, an autopsy confirmed the diagnosis.
Publication Name: The New England Journal of Medicine
Subject: Health
ISSN: 0028-4793
Year: 1998
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