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The leucine rich repeat kinase 2 (LRRK2) G2019S substitution mutation. Association with Parkinson disease, malignant melanoma and prevalence in ethnic groups in Israel.
J Neurol. 2009 Mar; 256(3):483-7.JN

Abstract

BACKGROUND

A single missense mutation (G2019S) in the leucine rich repeat kinase 2 (LRRK2) gene has been reported to be prevalent among Ashkenazi Jewish patients with Parkinson disease (PD). An association between malignant melanoma (MM) and PD was also recently reported. The nature of this association is still elusive.

OBJECTIVE

To evaluate the rate of the G2019S(*) LRKK2 mutation among ethnically diverse, Jewish PD patients, MM patients, and Ashkenazi, Iraqi and Moroccan healthy controls.

PATIENTS AND METHODS

Overall, 242 Jewish PD patients (155 Ashkenazim and 7 of mixed origin) and 169 Jewish MM patients (142 Ashkenazim) were genotyped for the G2019S mutation. In addition, 900 healthy ethnic Jewish controls (300 Ashkenazim, 300 Moroccans and 300 Iraqis) were similarly analyzed. Genotyping was performed using PCR amplification followed by restriction digest and gel electrophoresis. Statistical analysis was done using the Chi square test.

RESULTS

Overall 19/242 (7.9 %) of the PD patients (16/155 of Ashkenazim, 10.3 %; 3/87 of non-Ashkenazim, 3.4 %) harbored the G2019S LRKK2 mutation. The age at diagnosis of PD in mutation carriers was 60.6 +/- 10.9 years compared with an age at diagnosis of 61.1 +/- 13.4 years in non-carriers (p = 0.87). Nine of 38 familial Ashkenazi PD patients (23.68 %) carried the mutation, as did 2/169 MM patients (1.2 %; 2/142, 1.4 % of the Ashkenazim). A single mutation carrier of Ashkenazi origin was detected among 900 controls (0.3 % of the Ashkenazi controls).

CONCLUSION

The G2019S*LRKK2 mutation is significantly more prevalent in Ashkenazi PD patients than in controls (p = 1 x 10(-6)), it is less commonly detected in non-Ashkenazi affected individuals, and its contribution to MM predisposition in Jewish individuals needs to be explored further.

Authors+Show Affiliations

The Parkinson's Disease and Movement Disorders Clinic, Dept. of Neurology and Sagol Neuroscience Center, Chaim Sheba Medical Center, Tel-Hashomer, 52621, Israel. shassin@post.tau.ac.ilNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article

Language

eng

PubMed ID

19412725

Citation

Hassin-Baer, Sharon, et al. "The Leucine Rich Repeat Kinase 2 (LRRK2) G2019S Substitution Mutation. Association With Parkinson Disease, Malignant Melanoma and Prevalence in Ethnic Groups in Israel." Journal of Neurology, vol. 256, no. 3, 2009, pp. 483-7.
Hassin-Baer S, Laitman Y, Azizi E, et al. The leucine rich repeat kinase 2 (LRRK2) G2019S substitution mutation. Association with Parkinson disease, malignant melanoma and prevalence in ethnic groups in Israel. J Neurol. 2009;256(3):483-7.
Hassin-Baer, S., Laitman, Y., Azizi, E., Molchadski, I., Galore-Haskel, G., Barak, F., Cohen, O. S., & Friedman, E. (2009). The leucine rich repeat kinase 2 (LRRK2) G2019S substitution mutation. Association with Parkinson disease, malignant melanoma and prevalence in ethnic groups in Israel. Journal of Neurology, 256(3), 483-7. https://doi.org/10.1007/s00415-009-0117-x
Hassin-Baer S, et al. The Leucine Rich Repeat Kinase 2 (LRRK2) G2019S Substitution Mutation. Association With Parkinson Disease, Malignant Melanoma and Prevalence in Ethnic Groups in Israel. J Neurol. 2009;256(3):483-7. PubMed PMID: 19412725.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - The leucine rich repeat kinase 2 (LRRK2) G2019S substitution mutation. Association with Parkinson disease, malignant melanoma and prevalence in ethnic groups in Israel. AU - Hassin-Baer,Sharon, AU - Laitman,Yael, AU - Azizi,Esther, AU - Molchadski,Irena, AU - Galore-Haskel,Gilli, AU - Barak,Frida, AU - Cohen,Oren S, AU - Friedman,Eitan, Y1 - 2009/03/24/ PY - 2008/03/30/received PY - 2008/09/25/accepted PY - 2008/09/02/revised PY - 2009/5/5/entrez PY - 2009/5/5/pubmed PY - 2009/8/11/medline SP - 483 EP - 7 JF - Journal of neurology JO - J Neurol VL - 256 IS - 3 N2 - BACKGROUND: A single missense mutation (G2019S) in the leucine rich repeat kinase 2 (LRRK2) gene has been reported to be prevalent among Ashkenazi Jewish patients with Parkinson disease (PD). An association between malignant melanoma (MM) and PD was also recently reported. The nature of this association is still elusive. OBJECTIVE: To evaluate the rate of the G2019S(*) LRKK2 mutation among ethnically diverse, Jewish PD patients, MM patients, and Ashkenazi, Iraqi and Moroccan healthy controls. PATIENTS AND METHODS: Overall, 242 Jewish PD patients (155 Ashkenazim and 7 of mixed origin) and 169 Jewish MM patients (142 Ashkenazim) were genotyped for the G2019S mutation. In addition, 900 healthy ethnic Jewish controls (300 Ashkenazim, 300 Moroccans and 300 Iraqis) were similarly analyzed. Genotyping was performed using PCR amplification followed by restriction digest and gel electrophoresis. Statistical analysis was done using the Chi square test. RESULTS: Overall 19/242 (7.9 %) of the PD patients (16/155 of Ashkenazim, 10.3 %; 3/87 of non-Ashkenazim, 3.4 %) harbored the G2019S LRKK2 mutation. The age at diagnosis of PD in mutation carriers was 60.6 +/- 10.9 years compared with an age at diagnosis of 61.1 +/- 13.4 years in non-carriers (p = 0.87). Nine of 38 familial Ashkenazi PD patients (23.68 %) carried the mutation, as did 2/169 MM patients (1.2 %; 2/142, 1.4 % of the Ashkenazim). A single mutation carrier of Ashkenazi origin was detected among 900 controls (0.3 % of the Ashkenazi controls). CONCLUSION: The G2019S*LRKK2 mutation is significantly more prevalent in Ashkenazi PD patients than in controls (p = 1 x 10(-6)), it is less commonly detected in non-Ashkenazi affected individuals, and its contribution to MM predisposition in Jewish individuals needs to be explored further. SN - 1432-1459 UR - https://www.unboundmedicine.com/medline/citation/19412725/The_leucine_rich_repeat_kinase_2__LRRK2__G2019S_substitution_mutation__Association_with_Parkinson_disease_malignant_melanoma_and_prevalence_in_ethnic_groups_in_Israel_ L2 - https://dx.doi.org/10.1007/s00415-009-0117-x DB - PRIME DP - Unbound Medicine ER -