Glucose 6 phosphatase dehydrogenase (G6PD) and neurodegenerative disorders:Mapping diagnostic and therapeutic opportunities

Glucose 6 phosphate dehydrogenase(G6PD)is a key and rate limiting enzyme in the pentose phosphate pathway(PPP).The physiological significance of enzyme is providing reduced energy to specific cells like erythrocyte by maintaining co-enzyme nicotinamide adenine dinucleotide phosphate(NADPH).There are preponderance research findings that demonstrate the enzyme(G6PD)role in the energy balance,and it is associated with bloodrelated diseases and disorders,primarily the anemia resulted from G6PD deficiency.The Xlinked genetic deficiency of G6PD and associated non-immune hemolytic anemia have been studied widely across the globe.Recent advancement in biology,more precisely neuroscience has revealed that G6PD is centrally involved in many neurological and neurodegenerative disorders.The neuroprotective role of the enzyme(G6PD)has also been established,as well as the potential of G6PD in oxidative damage and the Reactive Oxygen Species(ROS)produced in cerebral ischemia.Though G6PD deficiency remains a global health issue,however,a paradigm shift in research focusing the potential of the enzyme in neurological and neurodegenerative disorders will surely open a new avenue in diagnostics and enzyme therapeutics.Here,in this study,more emphasis was made on exploring the role of G6PD in neurological and inflammatory disorders as well as non-immune hemolytic anemia,thus providing diagnostic and therapeutic opportunities.

A novel mis-sense mutation (G1381A) in the G6PD gene identified in a Chinese man

Objective To detect new mutations among 29 glucose 6 phosphate dehydrogenase (G6PD) deficient individuals from Yunnan province Methods The nitroblue tetrazolium (NBT) method was used to screen G6PD deficient individuals Mutation was identified by single strand conformation polymorphism (SSCP), amplification created restriction site (ACRS), amplification refractory mutation system (ARMS) and DNA sequencing Results Among 29 cases, 18 cases of G1388A, 1 case of C1004A, and 1 case of G1381A were identified Nine cases remained to be defined The G1381A mutation is a novel mis sense mutation, with a substitution of threonine for alanine (A461T) The resultant G6PD had reduced enzymatic activity In addition, G1381A caused a restriction site of Stu I to disappear, providing a rapid method for the detection of this mutation Conclusion A novel mis sense mutation G1381A was found This mutation results in a substitution of threonine for alanine, producing enzyme with reduced activity The loss of the Stu I restriction site offers a rapid method for the detection of this mutation