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5 Cards in this Set
- Front
- Back
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Leber Hereditary Optic
Neuropathy (LHON) |
Point mutation in protein
coding genes (90% of cases in NAD1, 4 or 6) leading to decrease in ATP production Mitochondrial inheritance (maternal) Heteroplasmy is rare and disease expession is pretty uniform Progressive bilateral, painless visual failure that develops in young adult. Males are more likely affected for unknown reasons. Selective degeneration of the retinal ganglion cell layer and optic nerve. Other features may include cardiac arrhythmias, postural tremor and movement disorders. |
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Myoclonic Epilepsy
Ragged‐Red Fibers (MERRF) |
Point mutation in tRNAlys 90%
of cases (causing premature termination of translation process for complex I and cytochrome oxidase) Point mutation in NADH dehydrogenase 5 subunit Mitochondrial inheritance (maternal) Heteroplasmy common leading to variable expression of the disease Myoclonus (muscle twitching), seizures, cerebellar ataxia, dementia, abnormal mitochondria in skeletal muscle that impart an irregular shape and bloddy red staining of the muscle cells. Some mitochondria contain parking lot inclusions. |
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Mitochondrial Myopathy,
Encephalopathy, Lactic Acidosis and Stroke like Episodes syndrome (MELAS) |
Point mutation in tRNAleu 80%
of cases(causing premature termination of translation process for cytochrome oxidase i.e complexIV) Point mutation in NADH dehydrogenase 5 subunit Mitochondrial inheritance (maternal) Heteroplasmy common leading to variable expression of the disease Mitochondrial myopathy evidenced by lactic acidosis, encephalopathy with seizures/dementia, stroke like episodes |
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Kearns‐Sayre syndrome
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Partial deletions and
duplications of mtDNA resulting in decrease activity of complexes I‐IV Mitochondrial inheritance (maternal) Heteroplasmy common leading to variable expression of the disease Chronic progessive external ophthalmoplegia (paralysis of the muscle controlling the eyes),pigmentary degeneration of the retina, hearing loss, vestibular dysfunction, cerebellar ataxia and onset around 20 years of age |
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Leigh syndrome
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point mutation in protein
genes and RNA genes Mendelian inheritance (AR) for mutations in nuclear genes Mitochondrial inheritance (maternal) Heteroplasmy common for mutation in mtDNA Disease of early childhood, lactic acidosis, arrest of psychomotor development, feeding problems, seizures, extraoccular palsies and weakness with hypotonia. Death within 1 to 2 years |
