Nuclear genes, mutations

Nuclear Gene Mutations Involved in the Maintenance of mtDNA Copy... 

If the drug resistance level caused by cytoplasmic mutation is higher than that caused by nuclear gene mutation, one can specifically select for cytoplasmic mutants. This situation seems to be realized in the case of erythromycin resistance. Clearly, this situation appears to provide a genetically sound test system, but it has to be calibrated before it is used for routine screening. 

Mutations in one nuclear gene (ATP12), encoding an ATPase assembly protein, have been associated with complex V deficiency in an infant with congenital lactic acidosis and a rapidly fatal disorder affecting brain, liver, heart, and muscle [19]. 

It should be born in mind that normal MRC activity can be found in an organ or a tissue that does not clinically express the disease. One might deal with a tissue-specific organ deficiency, as observed in Friedreich s ataxia where iron-sulfur deficiency is barely detectable in skeletal muscle or skin fibroblasts [57]. Tissue specificity is far from being understood it is often observed even in the case of patients harboring deleterious mutation in nuclear genes with widespread expression in the organism [9]. 

Dimethylhydrazine induced mieronueleus formation, gene mutation, nuclear aberrations and DNA strand breaks and fonned DNA adducts in rodents in vivo. 

A mutation in any of the 13 protein subunits, the 22 tRNAs, or the two rRNAs whose genes are carried in mitochondrial DNA may possibly cause disease. The 13 protein subunits are all involved in electron transport or oxidative phosphorylation. The syndromes resulting from mutations in mtDNA frequently affect oxidative phosphorylation (OXPHOS) causing what are often called "OXPHOS diseases."3-6 Mitochondrial oxidative phosphorylation also depends upon 100 proteins encoded in the nucleus. Therefore, OXPHOS diseases may result from defects in either mitochondrial or nuclear genes. The former are distinguished by the fact that they are inherited almost exclusively maternally. Most mitochondrial diseases are rare. However, mtDNA is subject to rapid mutation, and it is possible that accumulating mutants in mtDNA may be an important component of aging.h k... 

Pearson ER, Liddell WG, Shepherd M, Corrall RJ, Hattersley AT. Sensitivity to sulphonylureas in patients with hepatocyte nuclear factor-lalpha gene mutations evidence for pharmacogenetics in diabetes. Diabet Med 2000 17(7) 543-5. 

Marchenko, N. D., and Moll, U. M. 1997. Nuclear overexpression of p53 protein does not correlate with gene mutation in primary peritoneal carcinoma. Human Pathol. 28 1002-1006. 

Mutations in Nuclear Genes That Affect Mitochondrial Respiratory Enzymes. 104... 

Mutations in Nuclear Genes and Animal Models of Mitochondrial Diseases... 106... 

In 1995, Bourgeron et al. (B7) first reported that mutation in a nuclear gene coding for succinate dehydrogenase may result in mitochondrial disease. In 1998,... 

Mutations in the nuclear genes that specify mitochondrial proteins can lead to mitochondrial disorders that obey Mendelian genetics. For... 

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