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.

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.

Parkinson's Disease Chart

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].

Envita Medical Centers doesn't make any guarantee of outcomes. Results are not typical and will vary from person to person and should not be expected.

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 Center, 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.