RESUMEN
Plant NADH glutamate dehydrogenase (GDH) is an intriguing enzyme, since it is involved in different metabolic processes owing to its reversible (anabolic/catabolic) activity and due to the oligomeric nature of the enzyme, that gives rise to several isoforms. The complexity of GDH isoenzymes pattern and the variability of the spatial and temporal localization of the different isoforms have limited our comprehension of the physiological role of GDH in plants. Genetics, immunological, and biochemical approaches have been used until now in order to shed light on the regulatory mechanism that control GDH expression in different plant systems and environmental conditions. We describe here the validation of a simple in planta GDH activity staining procedure, providing evidence that it might be used, with different purposes, to determine GDH expression in plant organs, tissues, extracts and also heterologous systems.
Asunto(s)
Glutamato Deshidrogenasa/metabolismo , Plantas/enzimología , Arabidopsis/enzimología , Arabidopsis/metabolismo , Colorantes , Pruebas de Enzimas/métodos , Regulación de la Expresión Génica de las Plantas , Extractos Vegetales/metabolismo , Plantas/metabolismo , Saccharomyces cerevisiae/enzimología , Saccharomyces cerevisiae/metabolismo , Nicotiana/enzimología , Nicotiana/metabolismoAsunto(s)
ADN Polimerasa Dirigida por ADN/genética , Mutación/genética , Enfermedades Neurodegenerativas/genética , Adulto , ADN Polimerasa gamma , Femenino , Humanos , Masculino , Enfermedades Neurodegenerativas/patología , Enfermedades Neurodegenerativas/psicología , Linaje , Fenotipo , Adulto JovenRESUMEN
Mitochondrial DNA depletion syndromes (MDSs) form a group of autosomal recessive disorders characterized by profoundly decreased mitochondrial DNA copy numbers in affected tissues. Three main clinical presentations are known: myopathic, encephalomyopathic and hepatocerebral. The first is associated with mutations in thymidine kinase 2 (TK2) and p53-induced ribonucleotide reductase B subunit (RRM2B); the second with mutations in succinate synthase A (SUCLA2) and B (SUCLG1); the third with mutations in Twinkle (PEO1), pol-gammaA (POLG1), deoxyguanosine kinase (DGUOK) and MPV17 (MPV17). In this work, we review the MDS-associated phenotypes and present our own experience of 32 MDS patients, with the aim of defining the mutation frequency of the known genes, the clinical spectrum of the diseases, and the genotype-phenotype correlations. Five of our patients carried previously unreported mutations in one of the eight MDS genes.