Rabbil Pratama Aji1, Rizky Priambodo2, Cut Nurul Hafifah3, Damayanti Rusli Sjarif3
1Department of Biology, Faculty of Mathematics and Natural Science, Universitas Indonesia, Depok, Indonesia.
2Human Genetic Research Center, Indonesian Medical Education and Research Institute, Universitas Indonesia, Jakarta, Indonesia.
3Human Genetic Research Center, Indonesian Medical Education and Research Institute, Universitas Indonesia; Department of Pediatric, Universitas Indonesia, RSUPN Dr. Cipto Mangunkusumo, Jakarta, Indonesia.
Objective: Gaucher disease (GD) is the most common lysosomal storage disorder. It is caused by a deficiency of β-glucocerebrosidase (GCase, encoded by GBA) and its inheritance is autosomal recessive. Analyses of common mutations in GBA have been performed in China, Singapore, Taiwan, and Thailand, but not previously in Indonesia. The objective of this study was to identify a common exonic mutation in exons 9–11 of GBA in GD patients in Indonesia. Materials and Methods: Genetic analysis was performed using blood samples from two GD patients and thirty non-GD patients. Peripheral leukocyte samples were collected at the Dr. Cipto Mangunkusumo Referral Hospital, Jakarta, Indonesia. The polymerase chain reaction was performed to amplify exons 9–11 of the GBA gene using specific primers, then the product was digested with Nci I restriction enzyme, and the sequence confirmed by sequence analysis. Results: This identified an L444P mutation located in exon 10. This missense mutation changes amino acid 483 of GCase from leucine to proline and is categorized as a pathogenic variant. Conclusion: This identification of the L444P mutation adds to a database for determining the prevalence of GD in Indonesia. However, further research is needed to ascertain the impact of the L444P mutation on the structure of GCase and to explore any mutations in the other exons.
Keywords: Gaucher disease, GBA gene, glucocerebrosidase, L444P mutation.