De novo COX2 mutation in a LHON family of Caucasian origin: implication for the role of mtDNA polymorphism in human pathology.

Recent studies suggest that certain mutations with phylogeographic importance as haplogroup markers may also influence the phenotypic expression of particular mitochondrial disorders. One such disorder, Leber's hereditary optic neuropathy (LHON), demonstrates a clear expression bias in mtDNAs belonging to haplogroup J, a West Eurasian maternal lineage defined by polymorphic markers that have been called 'secondary' disease mutations. In this report, we present evidence for a de novo heteroplasmic COX2 mutation associated with a LHON clinical phenotype.

A novel mtDNA ND6 gene mutation associated with LHON in a Caucasian family.

Leber's hereditary optic neuropathy (LHON) is a frequent cause of inherited blindness. A routine screening for common mtDNA mutations constitutes an important first in its diagnosis. However, a substantial number of LHON patients do not harbor known variants, both pointing to the genetic heterogeneity of LHON and bringing into question its genetic diagnosis.

[The protein-synthesizing activity of a number of strains of Cladosporium cladosporioides (Fres.) de Vries grown under conditions of continuous low-intensity gamma irradiation].

Phenomena of melanization of radioactively polluted soils, due to prevalence of melanin-containing species and positive radiotropism of some micromycetes have been found during monitoring of mycobiota of the 30-km alienation zone of the Chernobyl NPP for 10 years. To elucidate the contribution of the melanin system to the cell protection against irradiation, the influence of gamma-irradiation on the activity of protein synthesis in four Cladosporium cladosporioides (Fres.) de Vries strains has been investigated.