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Evaluating LRRK2 Genetic Variants with Unclear Pathogenicity
المؤلفون المشاركون
Refai, Fathima Shaffra
Ng, Shin Hui
Tan, Eng King
المصدر
العدد
المجلد 2015، العدد 2015 (31 ديسمبر/كانون الأول 2015)، ص ص. 1-6، 6ص.
الناشر
Hindawi Publishing Corporation
تاريخ النشر
2015-03-02
دولة النشر
مصر
عدد الصفحات
6
التخصصات الرئيسية
الملخص EN
Mutations in the leucine-rich repeat kinase 2 (LRRK2) have been known to be a major genetic component affecting Parkinson’s disease (PD).
However, the pathogenicity of many of the LRRK2 variants is unclear because they have been detected in single patients or also in patients and controls.
Here, we selected 5 exonic variants (L1165P, T1410M, M1646T, L2063X, and Y2189C) from each of the protein domain of LRRK2 and analysed their possible association with pathogenicity using in vitro functional assays.
Point mutations representing each of these variants were incorporated into the LRRK2 gene, and functional aspects such as the percentage of cell survival upon application of stress and kinase activity were measured.
Our results showed that all 5 variants had a significantly negative effect on the survival of cells, in both presence and absence of stress, as compared to the wild-type.
In addition, there was also a slight increase in kinase activity in most of the variants in comparison to the wild-type.
A negative correlation between cell survival and kinase activity was observed.
These data suggest that most of the variants despite being located in different domains of LRRK2 appear to exert a potential pathogenic effect possibly through an increased kinase activity, supporting a gain of function mechanism.
نمط استشهاد جمعية علماء النفس الأمريكية (APA)
Refai, Fathima Shaffra& Ng, Shin Hui& Tan, Eng King. 2015. Evaluating LRRK2 Genetic Variants with Unclear Pathogenicity. BioMed Research International،Vol. 2015, no. 2015, pp.1-6.
https://search.emarefa.net/detail/BIM-1056356
نمط استشهاد الجمعية الأمريكية للغات الحديثة (MLA)
Refai, Fathima Shaffra…[et al.]. Evaluating LRRK2 Genetic Variants with Unclear Pathogenicity. BioMed Research International No. 2015 (2015), pp.1-6.
https://search.emarefa.net/detail/BIM-1056356
نمط استشهاد الجمعية الطبية الأمريكية (AMA)
Refai, Fathima Shaffra& Ng, Shin Hui& Tan, Eng King. Evaluating LRRK2 Genetic Variants with Unclear Pathogenicity. BioMed Research International. 2015. Vol. 2015, no. 2015, pp.1-6.
https://search.emarefa.net/detail/BIM-1056356
نوع البيانات
مقالات
لغة النص
الإنجليزية
الملاحظات
Includes bibliographical references
رقم السجل
BIM-1056356
قاعدة معامل التأثير والاستشهادات المرجعية العربي "ارسيف Arcif"
أضخم قاعدة بيانات عربية للاستشهادات المرجعية للمجلات العلمية المحكمة الصادرة في العالم العربي
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