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MELAS as an example of a mitochondrial disease

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Piechota J., Mroczek M. K., Mroczek K., Bartnik B. E., Bartnik E.

Journal of Applied Genetics

2001

vol. 42

issue 3

351-358

MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes) is a disease mainly due to a mutation at position 3243 (A G) in the leucine tRNA gene in mitochondrial DNA. Symptoms of the disorder are complex and the exact pathogenesis is not understood. A review of the literature on the subject is presented.

Leber hereditary optic neuropathy ? a disease with a known molecular basis but a mysterious mechanism of pathology

51%

Mroczek-Tonska K., Kisiel B., Piechota J., Bartnik E.

Journal of Applied Genetics

2003

vol. 44

issue 4

529-538

Leber hereditary optic neuropathy is a maternally inherited type of blindness caused by degeneration of the optic nerve. It is caused by point mutations in mitochondrial DNA. Like in other mitochondrial diseases, its penetrance and inheritance is complicated by heteroplasmy, tissue distribution, and the bottleneck phenomenon in oocyte maturation. On the cellular level, the mechanism of the disease development is still mysterious. Currently three theories of pathomechanism of LHON are considered: biochemical, ROS (reactive oxygen species) and apoptotic.

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2 Journal of Applied Genetics

1 2003

1 2001

2 Bartnik E.

2 Piechota J.

1 Bartnik B. E.

1 Kisiel B.

1 Mroczek K.

1 Mroczek M. K.

1 Mroczek-Tonska K.

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MELAS as an example of a mitochondrial disease

Leber hereditary optic neuropathy ? a disease with a known molecular basis but a mysterious mechanism of pathology