A joint research project to gain in-depth knowledge of the structure of pyruvate carboxylase when it is in solution has been undertaken by researchers from CIC bioGUNE's Structural Biology Unit and Columbia University (New York). The study is published in the prestigious scientific journal Structure.
Pyruvate carboxylase is a metabolic enzyme that plays a fundamental role in the metabolism of fatty acids (the components of fats) and sugars. When its function is not adequately performed (for example, when mutations in the gene arise) diverse metabolic diseases of genetic origin are triggered, amongst them lactic acidaemia, hypoglycaemia, and psycho-motor retardation. At the same time, being at a metabolic crossroads, pyruvate carboxylase is potentially a target in obesity and diabetes treatments.
Genetic Counselling - Steps GeneticInheritance Risks Conclusion
Encyclopedia section of medindia gives general info about Genetic counseling
Encyclopedia section of medindia gives general info about Genetic counseling
Mikel Valle, a researcher from CIC bioGUNE's Structural Biology Unit explains that This is the start of a highly ambitious study which is being carried out at CIC bioGUNE and which aims to discover the functioning of pyruvate carboxylase. This they shall achieve by observing its structure throughout its functional cycle, in the hope of discovering its structure in each of the steps it follows during its functioning.
About Genetic Testing
Genetic testing helps to confirm a genetic condition in an individual and involves q complex laboratory techniques
Genetic testing helps to confirm a genetic condition in an individual and involves q complex laboratory techniques
RAS
Muscular Dystrophy / Duchenne Muscular Dystrophy - Overview
Overview about muscular dystrophy, a muscle disease characterized by muscle weakness and muscle wasting.
Overview about muscular dystrophy, a muscle disease characterized by muscle weakness and muscle wasting.
