Mitochondrial genes, mutations

K4. Kitaoka, H., Kameoka, K., Suzuki, Y., Sasaki, E., Majima, M., Takada, K., Katagiri, H., Oka, Y., and Ohsawa, N., A patient with diabetes mellitus, mitochondrial myopathy, and a mitochondrial gene mutation Confirmation of a gene mutation in cardiac muscle. Diabet. Res. Clin. Pract. 28, 207-212(1995). 

Mitochondrial Genes Their Origin and the Effects of Mutations 719... 

Mutations in Mitochondrial Genes Cause Human Disease... 

A growing number of human diseases can be attributed to mutations in mitochondrial genes. Many of these diseases, those known as the mitochondrial encephalomyopathies, affect primarily the brain and skeletal muscle (both heavily dependent on an abundant supply of ATP). These diseases are invariably inherited from the mother, because a developing em-... 

Mutations in the genes that encode components of the respiratory chain, whether in the mitochondrial genes or in the nuclear... 

N4. Nishino, I., Spinazzola, A., and Hirano, M., Thymidinephosphorylase gene mutations in MNGIE, a human mitochondrial disorder. Science 283, 689-692 (1999). 

Mitochondrial disease. A mutation in a mitochondrial gene encoding a component of ATP synthase has been identified. People who have this mutation suffer from muscle weakness, ataxia, and retinitis pigmentosa. A tissue biopsy was performed on each patient, and submitochondrial particles were isolated that were capable of succinate-sustained ATP synthesis. First, the activity of the ATP synthase was measured on the addition of succinate and the following results were obtained. 

This disease is caused by an autosomal recessive gene mutation (localization on chromosome 2) and leads to an enzyme defect in mitochondrial steroid-27 hydroxylase. The enzyme itself is responsible for the breakdown of cholesterol side-chains in bile acid synthesis. Such a defect results in the formation of cholestanol, a reduction product of cholesterol. It is deposited in various organs, particularly in the tendons and in the nervous system, because the substance cannot be broken down adequately. Deposition takes place conjointly with cholesterol. (209, 210)... 

Fischel-Ghodsian N, Prezant TR, Bn X, Oztas S. Mitochondrial ribosomal RNA gene mutation in a patient with sporadic aminoglycoside ototoxicity. Am J Otolaryngol 1993 14(6) 399 03. 

Mitochondrial disease. A mutation in a mitochondrial gene encoding a component ol A I P synthase has been identified. People who have this mutation sulfer Irom muscle weakness, ataxia, and... 

Sor, F., and Fukuhara, H. (1982). Identification of two erythromycin resistance mutations in the mitochondrial gene coding for the large ribosomal RNA in yeast. Nucleic Acids Res. 10, 6571-6577. 

Clinical diseases involving components of oxidative phosphorylation (referred to as OXPHOS diseases) are among the most commonly encountered degenerative diseases. The clinical pathology may be caused by gene mutations in either mitochondrial DNA (mtDNA) or nuclear DNA (nDNA) that encode proteins required for normal oxidative phosphorylation. 

An important target for gene therapy is the mitochondrial genome, mutations of which may be involved in many rare diseases. Such mitochondiiopathies may be amenable to treat-ment by genetic modifications... 

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