B12 METABOLISM IN HUMANS By NICOLE AURORA LEAL A ...

124
Future studies should also be focused on determining the mode of interaction
between MSR and ATR. Approaches to verifying the interaction between these enzymes
include gel filtration, immuno-precipitation, and native PAGE analyses. All of these
techniques would verify a physical interaction between MSR and ATR and give a better
understanding of how this system functions in vivo.
Most importantly, knowledge of the ATR gene will allow for DNA based methods
of methylmalonic aciduria diagnosis following amniocentesis or chorionic villi sampling
and could aid in determining the mode of treatment. Additionally, identification of the
ATR gene makes possible the development of gene therapy as a treatment for cblB
methylmalonic aciduria.