Patient: I have Parkinson’s and the mutation MAOB rs1799836 +/+. Does this mutation accelerates the degradation of dopamine, making my PD symptoms worse, or slows it down (downregulates it), relieving my symptoms?
Symptoms: My current UPDRS score is 38.
Doctor: Hi, Welcome to ATD. Thanks for your query.MAOB degrades dopamine and has an important role in PD pharmacological tre atment. This enzyme is encoded by the MOAB gene mapped at chromosome Xp11. Studies did not observe a significant association between levodopa doses used for 5 years and the polymorphism (rs1799836) in MAOB. There have been conflicting results in studies evaluating the effect of MAOB polymorphism. Some studies have shown increased risk for PD with this polymorphism while others din’t.At the moment we do not know the effect of MAO mutations on people with Parkinson’s. Irrespective of the mutation status we are able to treat patients in the same fashion. So the most important part is to simply optimize the meds to treat your symptoms.Good luck.
Comments / Follow Ups
Patient: A follow-up question: does a consistently elevated homovanillic acid throw light on whether, in my case, the mutation works against me (i.e., upregulates)? Or it reflects the intake of levodopa? Thank you!
It usually reflects the intake of levodpa. The effect on the mutation on the level of HVA is is not known as its effect on dopa therapy have been inconclusive. There has been very high correlation between the HVA levels and improvement after L-dopa therapy in patients with relatively high levels of the dopamine catabolite. Patients with normal HVA levels did not respond to L-dopa.
So it is unlikely that the mutation will result in elevation of HVA. It reflects levodopa intake and suggests improvement in disease status.
All the best.