Genetic Factors Underlying the Treatment of Parkinson’s Disease
Utilizing the latest treatments options via establishing a thorough diagnosis
Parkinson’s disease was first described in 1817 by James Parkinson in his publication “An Essay on the Shaking Palsy”
[1]. Since then, the disease in question has come to be known as Parkinson’s disease. It is a chronic, progressive
neurological disease that we are beginning to better understand through new techniques like genetic assay and
identification of specific risk factors related to the condition.
Disclaimer: Individual results will vary. Envita makes no guarantees for outcomes. Each patient case is unique. Please
consult your doctor before making any changes to your medical treatment. Not every patient is a candidate for care or
achieves these results. Treatments used in this case may not all be FDA approved for the treatment of this condition.
While the cause of Parkinson’s disease is generally accepted as unknown, from our clinical experience and recent
scientific data, Parkinson’s disease seems to be linked to multiple different genetic and environmental factors. Some
of these factors may lend themselves to treatment better than others. To potentially find more effective treatment
options it is critical to know the cause of the disease. Addressing the causes of Parkinson’s disease is something
many integrative doctors have been talking about exhaustively for decades. However, until the advent of new genomic
technologies, discovering these potential causes has not been feasibly possible for Parkinson’s disease patients in
the past. And even though what we are discussing in this article is important to potential treatment options, we must
state clearly that not every patient with Parkinson’s disease responds in the same way to each treatment. It all
starts with a more thorough diagnosis followed by a more complete treatment plan.
Are Parkinson’s patients being correctly diagnosed for potential causes?
The answer is NO and here’s why: With the advent of genomics and recent published studies, we can
now see Parkinson’s disease (PD) is brought on by multiple different causes or a combination of causative factors. By
addressing these causative factors and interpreting the genetic variations of each individual with PD, we may better
offer targeted and personalized treatment options to help improve the quality of life for some patients.
Potential risk factors of Parkinson’s:
Pesticide exposure
Head trauma
Certain medications
Prolonged oxidative stress from infections like chronic Lyme disease
High homocysteine levels
Multiple Genetic variants: MAOB, HNMT, etc...
Elevated L-DOPA (DCC)
Vitamin B6 deficiency
Heavy Metal Toxicity
Better Understanding Parkinson’s as a Genomic Condition
Parkinson’s disease has been known for years to travel in some families. Autosomal dominant parkinsonism has been
attributed to pathological substitutions in leucine-rich repeat kinase 2 (LRRK2), rendering the enzyme incapable of
performing its regular functions. Type 8 of autosomal dominant parkinsonism has been attributed to a heterozygous
mutation in this LRRK2 enzyme labeled LRRK2 G2019S. The study was able to conclude that this specific substitution
mutation accounted for parkinsonism in several family lines located in both Europe and North America [2].
Disclaimer: Individual results will vary. Envita makes no guarantees for outcomes. Each patient case is unique. Please
consult your doctor before making any changes to your medical treatment. Not every patient is a candidate for care or
achieves these results. Treatments used in this case may not all be FDA approved for the treatment of this condition.
The G2019S variant is one of the most common genetic causes of PD (and presents with an earlier age onset of motor
symptoms) affecting approximately 1 in 10,000 people [3]. Among those with PD, the LRRK2 G2019S represents the cause
for approximately 5% of individuals with a family history of PD, and about 3% of sporadic cases. Not all carriers of
the G2019S mutation will develop parkinsonism with rates varying between 17% at age 50 and 85% at age 70 [3]. However,
it appears that the group with this mutation is at high risk for developing PD compared to those without the mutation.
A study from 23andme (GWAS) researched genes conferring protection on those with high-risk genes [4]. They found that
of those who have the G2019S variant, those who also had a mutation in SGK1, an RNA cluster associated with cell
survival in neurodegenerative diseases, were found to have a lower risk of developing parkinsonism than those with
just the G2019S variant. Thus, it appears that SGK1 is capable of conferring protection against the increased risk of
PD [5]. To learn more about personalized diagnosis options and treatment options please contact us.
While this information is invaluable in the growing body of knowledge surrounding Parkinson’s Disease, the cause of
your specific condition might be genetic or it may be environmental as well. At Envita Medical Centers, we encourage
all patients to consider their own personal situation and take their health into their own hands. Remember, it is
important to consult with your own physician regarding your health needs and to ask their advice when making decisions
about your health. It’s important to recognize that every patient is unique and requires a detailed level of
customization. Every treatment at Envita is customized and tailored to each individual patient for optimal benefit. To
learn more about how we can help you or a loved one please contact one of our patient care educators today.
References
[1] Donaldson, I.M.L., James Parkinson's essay on the shaking palsy. The journal of the Royal College of
Physicians of Edinburgh, 2015. 45(1): p. 84.
[2] Kachergus, J., et al., Identification of a Novel LRRK2 Mutation Linked to Autosomal Dominant Parkinsonism:
Evidence of a Common Founder across European Populations. The American Journal of Human Genetics, 2005. 76(4): p.
672-680.
[3] Thaler, A., et al., Lower cognitive performance in healthy G2019S LRRK2 mutation carriers. Neurology, 2012.
79(10): p. 1027-1032.
[4] 23andMe Discovers Genetic Variant That May Protect Those at High Risk for Parkinson's Disease. Health
Business Week, 2011: p. 285.
[5] Eriksson, N. and C. Do, Polymorphisms associated with Parkinson's disease. 2012, Google Patents.
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