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The sector of mitochondrial illnesses is at present one of many swiftly starting to be fields of study in mobile and molecular biology. This quantity encompasses the newest improvement during this box of study. The chapters disguise themes in a variety of disciplines together with biophysics, biochemistry, mobile and molecular biology, molecular genetics, and scientific medication.
Summarizes becoming facts of the function of mitochondria in loads of pathological conditions
Brings jointly various methods towards knowing mitochondria diseases
Molecular and mobile biology
Clinical body structure and medicine
Details the the most important position this organelle performs in genetic law of varied organic capabilities.
Read or Download Current Topics in Bioenergetics, Volume 17: Molecular Basis of Mitochondrial Pathology PDF
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Additional resources for Current Topics in Bioenergetics, Volume 17: Molecular Basis of Mitochondrial Pathology
Enzymes reported defective in human diseases are underlined. SARA SHANSKE AND SALVATORE DIMAURO 28 T A B L E III BIOCHEMICAL CLASSIFICATION OF THE MITOCHONDRIAL MYOPATHIES 1. 2. 3. 4. 5. Defects of substrate transport Carnitine palmitoyltransferase deficiency Carnitine deficiency Defects of substrate utilization Pyruvate dehydrogenase complex deficiency Pyruvate carboxylase deficiency Defects of ß-oxidation Defects of the Krebs cycle Fumarase deficiency a-Ketoglutarate dehydrogenase (dihydrolipoyl dehydrogenase) deficiency Aconitase deficiency Defects of oxidation-phosphorylation coupling Luff s syndrome (loose coupling of muscle mitochondria) Defects of the respiratory chain and ATP synthase Complex I deficiency Complex II deficiency Complex III deficiency Complex IV deficiency Complex V deficiency Combined defects of respiratory chain components reversibly esterified with L-carnitine, a reaction that is catalyzed by the enzyme carnitine palmitoyltransferase (CPT).
Although the defect has been documented only in cultured fibroblasts, the same uptake system is probably shared by muscle, heart, and kidney, thus explaining the lipid storage myopathy, the cardiomyopathy, and the renal loss of carnitine. , 1990). Β. DEFECTS OF SUBSTRATE UTILIZATION 1. Pyruvate Dehydrogenase Complex Deficiency The pyruvate dehydrogenase complex (PDHC) catalyzes the conversion of pyruvate to acetyl-coA (Fig. 1) and is dependent on thiamine pyrophosphate and lipoic acid as cofactors.
22 SARA SHANSKE AND SALVATORE DIMAURO and defects of individual complexes of the respiratory chain. In the 1980s, the rapid accumulation of biochemical knowledge led to a rational biochemical classification of mitochondrial diseases, which were divided into five main groups based on the area of mitochondrial metabolism affected, as will be discussed in detail below. Mitochondrial diseases are uniquely interesting from the genetic point of view because mitochondria are endowed with their own DNA.