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Dr. Okun

Post of the Week: Gaucher's Disease and PD: A Genetic Link

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What’s Hot in Parkinson’s Disease: December 2009

 

Parkinson’s Disease Linked to Gaucher’s Disease: A Rare Disease Informs Us About a Common One

Michael S. Okun, M.D.

National Medical Director, National Parkinson Foundation

 

 

There has been a “snowball effect” pertaining to genetic research in Parkinson’s disease. Even researchers uninterested in genetics have been finding the DNA links to be fascinating, and potentially enlightening to the underlying disease pathogenesis. In the October edition of the New England Journal of Medicine, another genetic link has emerged- this time to a rare disorder called Gaucher’s disease.

 

There is a gene in the body that codes for an important enzyme called glucocerebrosidase which functions to break down glucocerebroside (fat). If this fat is not broken down properly, it can damage multiple organs potentially including the brain. Interestingly the enzyme functions in part of the cell called the lysozyme, or the trash compactor. Many scientists believe part of the problem in Parkinson’s disease is in the abnormal processing of protein by the body’s “trash compactors.” If you have two copies of the Gaucher’s gene you will develop fulminant Gaucher’s disease. It you have one copy, you are referred to as a gene carrier. Gene carriers for Gaucher disease, according to this new research study, have a five times increased risk of developing the symptoms of Parkinson’s disease. It is important to point out that there is much disagreement between experts if this Gaucher’s syndrome is true Parkinson’s disease, or rather parkinsonism (a group of similar looking symptoms).

 

Several alterations of the genetic patterns in Gaucher’s carriers were located by collaborating researchers within this study. Ashkenazi Jews represented the highest risk group for disease (as they did in the LRKK2 Parkinson gene studies). It is important to note that the majority of Parkinson’s disease sufferers have no known genetic defect. Speculation has therefore turned to explore why some Parkinson’s disease patients fail to have single gene defects. The answer may lie in a simple genetic theory. “The genes load the gun and the environment pulls the trigger.” More research into susceptible genetic backgrounds will be needed, as well as research into potential environmental triggers (e.g. pesticides). Studies such as this recently published New England Journal work teach us that even rare diseases can inform us about common diseases.

 

Reference:

 

Sidransky E, Nalls MA, Aasly JO, Aharon-Peretz J, Annesi G, Barbosa ER, Bar-Shira A, Berg D, Bras J, Brice A, Chen CM, Clark LN, Condroyer C, De Marco EV, Dürr A, Eblan MJ, Fahn S, Farrer MJ, Fung HC, Gan-Or Z, Gasser T, Gershoni-Baruch R,Giladi N, Griffith A, Gurevich T, Januario C, Kropp P, Lang AE, Lee-Chen GJ,

Lesage S, Marder K, Mata IF, Mirelman A, Mitsui J, Mizuta I, Nicoletti G, Oliveira C, Ottman R, Orr-Urtreger A, Pereira LV, Quattrone A, Rogaeva E, Rolfs

A, Rosenbaum H, Rozenberg R, Samii A, Samaddar T, Schulte C, Sharma M, Singleton A, Spitz M, Tan EK, Tayebi N, Toda T, Troiano AR, Tsuji S, Wittstock M, Wolfsberg TG, Wu YR, Zabetian CP, Zhao Y, Ziegler SG. Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease. N Engl J Med. 2009 Oct 22;361(17):1651-61.

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If gene carriers for Gaucher disease, according to this new research study, have a five times increased risk of developing the symptoms of Parkinson’s disease, does that mean that it would be 5 times the average risk (something like 1.6%) which would be about 8% or just 5 times the risk or 5%?

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Presumably the former- 5 times the average risk.

 

Remember this is parkinsonian symptoms and may not be PD!

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My husband has been diagnosed with what we understood to be PD. We found that out that he is a carrier for Gaucher disease thanks to the 23 and me initiative. Your answer has rather confused me. I do not understand the difference between parkinsonian symptoms and Parkinson’s disease. Aren't they basically the same and wouldn't they be treated the same way? If they are different, is there something we should know with regards to the possibility that my husband's parkinsonian symptoms are because he is a carrier of the Gaucher disease gene?

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We apologize if any of our postings has created confusion for you. Let me try to clarify.

 

There are many causes of PD symptoms. We refer to PD in general, and we don't differentiate routinely between different syndromes. Many genetic abnormalities are associated with patients coming down with the symptoms of PD. We refer to the symptoms of PD as parkinsonism, but be arbitrarily differentiate between regular PD and PD-look a like syndromes. The PD look-a-likes include things like progressive supranuclear palsy and multiple system atrophy (these two respond less well to PD therapies). There are now many genes associated with PD and people carrying the genes are frequently coming down with parkinsonian symptoms. Do we refer to all of these genetic associations as PD or parkinsonism. There is a serious debate in the field.

 

The good news is that we treat them all the same--we tailor a solution for each person based on their motor and non-motor symptoms.

 

The Gaucher carriers are an interesting group as we are unsure whether it is the carrier status that results in the PD symptoms, or it is the carrier status that contributes to the unmasking of the PD symptoms...or in some cases may be unrelated (you may have PD regardless of Gaucher status). One thing to take to the bank is that while the experts figure it out, you should seek the same treatment regardless of your gene status.

 

Hope that helps. Have a great new year.

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Thanks for that helpful explanation Dr. Okun. I wondered why two supposedly different diseases were pretty much the same and treated the same but are called two different things. So thanks again.

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