Current Topics in Bioenergetics, Volume 17: Molecular Basis by Author Unknown

By Author Unknown

The sphere of mitochondrial ailments is at present one of many quickly becoming fields of study in mobile and molecular biology. This quantity encompasses the newest improvement during this box of study. The chapters conceal issues in a variety of disciplines together with biophysics, biochemistry, phone and molecular biology, molecular genetics, and scientific medication.

Summarizes becoming facts of the function of mitochondria in a lot of pathological conditions
Brings jointly diversified techniques towards figuring out mitochondria diseases
Molecular and mobile biology
Clinical body structure and medicine
Details the an important position this organelle performs in genetic legislation of assorted organic features.

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Extra resources for Current Topics in Bioenergetics, Volume 17: Molecular Basis of Mitochondrial Pathology

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Rev. 89, 503-520. , and Ozawa, T. (1991). Biochem. Biophys. Res. Commun. 180, 894-899. Thomas, S. , Gebicki, J. , and Dean, R. T. (1989). Biochim. Biophys. Acta 1002, 189197. Thorsness, P. , and Fox, T. D. (1990). Nature (London) 346, 376-379. Tomkinson, A. , Bonk, R. T , and Linn, S. (1988). /. Biol. Chem. 263, 12532-12537. Tomkinson, A. , Bonk, R. , and Linn, S. (1990). Nucleic Acids Res. 18, 929-935. Traber, J. (1991). Diplomarbeit ΕΤΗ. , and Marzuki, S. (1989). Lancet 1, 637-639. Turrens, J.

1983). Respiration with different substrates was impaired but returned to normal 2 after addition of the uncoupling agent 2,4-dinitrophenol or Ca +, suggesting that the limiting step involved phosphorylation rather than the respiratory chain. In addition, ATPase activity was decreased and responded poorly to dinitrophenol stimulation. The two patients had different phenotypes. , 1976). , 1983). Although family history was noninformative in both cases, the syndrome in the second patient is similar to that seen in a family with an mtDNA mutation in subunit 6 of complex V , as described below.

1992). , 1988). About 100 patients have been reported with PDH-E X deficiency. , 1977; Robinson, 1989): (1) A neonatal form, with onset in the first days or weeks of life and death usually before 6 months, is characterized by hypotonia, episodic apnea and lethargy, seizures, failure to thrive, and severe lactic acidosis. Dysmorphic features similar to those of fetal alcohol syndrome and agenesis of the corpus callosum are frequent. There is a marked predominance of affected males, suggesting involvement of the X-linked Ε Γ α subunit in many patients.

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