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2 Journal of Applied Genetics

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

100%

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

tom 44

nr 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.

Mitochondria and aging: innocent bystanders or guilty parties?

100%

Tonska K. , Solyga A. , Bartnik E.

tom 50

nr 1

55-62

. There are many theories of aging and a number of them encompass the role of mitochondria in this process. Mitochondrial DNA mutations and deletions have been shown to accumulate in many tissues in mammals during aging. However, there is little evidence that these mutations could affect the functioning of aging tissues.