Is m129V polymorphism in the prion protein gene associated with mesial temporal lobe epilepsy in a Han Chinese population?
The present study provides evidence that the M129V polymorphism in the PRNP gene is not associated with MTLE in a Han Chinese population.
Thus, our evolutionary, structural, and in vivo metabolic information suggests the residue 145 as of special function significance. The mouse model harboring leptin V145E mutation will provide new information on the current understanding of leptin biology and novel mouse model for the study of human obesity syndrome.