A specific genetic variation discovered by researchers at Linköping
University in Sweden protects against Parkinson's Disease –
especially for those who drink a lot of coffee.
Hereditary and environmental factors interact with one another in the emergence of diseases, and research is often focussed
on identifying genes and exposures that increase the risk for
contracting diseases. But there are also genetic variations –
mutations – and environmental factors that protect against
the emergence of certain diseases.Neurodegenerative diseases
such as Parkinson's have a complicated background where both
genetic factors and exposure to environmental factors are involved.
In a study of a million genetic malformations, the research team
identified a variant of the GRIN2A gene as a protective
factor against Parkinson's. The corresponding protein is
part of a complex that is thought to play a role in several
An epidemiological study of Parkinson's patients from two counties
in south east Sweden examined a combination of a previously
known protective factor – caffeine – and the genetic variant
in GRIN2A. The findings show that individuals with this
combination run a significantly lower risk of developing the disease.
The study gives a molecular explanation to the protective effects
that increased caffeine intake has on the development of Parkinson's.
Caffeine integrates with a dopamine receptor that regulates the flow of
calcium into the cell. As dopamine is part of the human reward system,
and the interaction of caffeine with it, it has been speculated that
individuals with certain genetic variations are not "rewarded" to the
same extent by a cup of coffee, and therefore would not enjoy
the same protective effect as others. The newly published study
shows that GRIN2A can be a part of such a genetic predisposition.
The study was conducted with financial support from the
Foundation for Parkinson's Research at Linköping University.
More information: Naomi Yamada-Fowler, Mats Fredrikson
och Peter Söderkvist (2014) "Caffeine Interaction with
Glutamate Receptor Gene GRIN2A: Parkinson's Disease in
Swedish Population." PLoS ONE 9(6):
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