Displaying publications 1 - 20 of 22 in total

Abstract:
Sort:
  1. Chang SK, Alasalvar C, Shahidi F
    Crit Rev Food Sci Nutr, 2019;59(10):1580-1604.
    PMID: 29360387 DOI: 10.1080/10408398.2017.1422111
    The term "superfruit" has gained increasing usage and attention recently with the marketing strategy to promote the extraordinary health benefits of some exotic fruits, which may not have worldwide popularity. This has led to many studies with the identification and quantification of various groups of phytochemicals. This contribution discusses phytochemical compositions, antioxidant efficacies, and potential health benefits of the main superfruits such as açai, acerola, camu-camu, goji berry, jaboticaba, jambolão, maqui, noni, and pitanga. Novel product formulations, safety aspects, and future perspectives of these superfruits have also been covered. Research findings from the existing literature published within the last 10 years have been compiled and summarized. These superfruits having numerous phytochemicals (phenolic acids, flavonoids, proanthocyanidins, iridoids, coumarins, hydrolysable tannins, carotenoids, and anthocyanins) together with their corresponding antioxidant activities, have increasingly been utilized. Hence, these superfruits can be considered as a valuable source of functional foods due to the phytochemical compositions and their corresponding antioxidant activities. The phytochemicals from superfruits are bioaccessible and bioavailable in humans with promising health benefits. More well-designed human explorative studies are needed to validate the health benefits of these superfruits.
  2. Zainal Z, Abdul Rahim A, Khaza'ai H, Chang SK
    Int J Mol Sci, 2019 Apr 10;20(7).
    PMID: 30974772 DOI: 10.3390/ijms20071764
    Synthetic therapeutic drugs for asthma, a chronic airway inflammation characterised by strong eosinophil, mast cell, and lymphocyte infiltration, mucus hyper-production, and airway hyper-responsiveness, exhibit numerous side effects. Alternatively, the high antioxidant potential of palm oil phytonutrients, including vitamin E (tocotrienol-rich fractions; TRF) and carotene, may be beneficial for alleviating asthma. Here, we determined the therapeutic efficacy of TRF, carotene, and dexamethasone in ovalbumin-challenged allergic asthma in Brown Norway rats. Asthmatic symptoms fully developed within 8 days after the second sensitization, and were preserved throughout the time course via intranasal ovalbumin re-challenge. Asthmatic rats were then orally administered 30 mg/kg body weight TRF or carotene. TRF-treated animals exhibited reduced inflammatory cells in bronchial alveolar lavage fluid. TRF- and carotene-treated rats exhibited notable white blood cell reduction comparable to that from dexamethasone. TRF- and carotene-treatment also downregulated pro-inflammatory markers (IL-β, IL-6, TNF-α), coincident with anti-inflammatory marker IL-4 and IL-13 upregulation. Treatment significantly reduced asthmatic rat plasma CRP and IgE, signifying improved systemic inflammation. Asthmatic lung histology displayed severe edema and inflammatory cell infiltration in the bronchial wall, whereas treated animals retained healthy, normal-appearing lungs. The phytonutrients tocotrienol and carotene thus exhibit potential benefits for consumption as nutritional adjuncts in asthmatic disease.
  3. Wong YS, Sia CM, Khoo HE, Ang YK, Chang SK, Chang SK, et al.
    Acta Sci Pol Technol Aliment, 2014 Jul-Sep;13(3):257-65.
    PMID: 24887941
    As a by-product of tropical fruit juice industry, passion fruit peel is a valuable functional food. It is rich in antioxidants. To determine its potential antioxidant properties of passion fruit peel, this study aimed to evaluate the effect of extraction conditions on total phenolic content and antioxidant activity.
  4. Chin SP, Poey AC, Wong CY, Chang SK, Teh W, Mohr TJ, et al.
    Cytotherapy, 2010;12(1):31-7.
    PMID: 19878080 DOI: 10.3109/14653240903313966
    Bone marrow (BM) mesenchymal stromal cells (MSC) represent a novel therapy for severe heart failure with extensive myocardial scarring, especially when performed concurrently with conventional revascularization. However, stem cells are difficult to transport in culture media without risk of contamination, infection and reduced viability. We tested the feasibility and safety of off-site MSC culture and expansion with freeze-controlled cryopreservation and subsequent rapid thawing of cells immediately prior to implantation to treat severe dilated ischemic cardiomyopathy.
  5. Guo HF, Mohd Ali R, Abd Hamid R, Chang SK, Zainal Z, Khaza'ai H
    Int J Burns Trauma, 2020;10(5):218-224.
    PMID: 33224609
    Burns are injuries on the skin or other tissues. Burns are divided into superficial, partial, and full-thickness, characterized by the depth of the affected tissues. Histological analysis is critical to assess the burn wound healing process. Thus, a systematic evaluation system is imperative for burn research. In the present study, a total of thirty Sprague-Dawley rats were randomly divided into five groups. Deep partial-thickness burn wound was induced on the dorsal part of the rats. Six animals from each group were sacrificed on the 3rd, 7th, 11th, 14th and 21st day post-burn, respectively. Half of the wound tissue was immediately fixed in buffered neutral formalin for hematoxylin & eosin staining. The healing of the epidermis was evaluated with scores ranging from 0 to 7 based on the state of crust on wound surface, the degree of epithelialization as well as the formation of rete ridges. Meanwhile, healing of the dermis was also evaluated with scores ranging from 0 to 7 according to the proportion of adipose cells, inflammatory cells and fibroblasts, the state of collagen deposition as well as the formation of hair follicles. Furthermore, temporal changes of histological score of epidermis and dermis in the skin tissue with deep partial-thickness burn was evaluated. In conclusion, a new comprehensive system for assessing microscopic changes in the healing process of deep partial-thickness burn wound in hematoxylin & eosin staining slides was established, which simplified the scoring process and helped to obtain reproducible and accurate results in the burn study.
  6. Chiroma AA, Khaza'ai H, Abd Hamid R, Chang SK, Zakaria ZA, Zainal Z
    PLoS One, 2020;15(11):e0241112.
    PMID: 33232330 DOI: 10.1371/journal.pone.0241112
    Natural α-tocopherol (α-TCP), but not tocotrienol, is preferentially retained in the human body. α-Tocopherol transfer protein (α-TTP) is responsible for binding α-TCP for cellular uptake and has high affinity and specificity for α-TCP but not α-tocotrienol. The purpose of this study was to examine the modification of α-TTP together with other related vitamin E-binding genes (i.e., TTPA, SEC14L2, and PI-TPNA) in regulating vitamin E uptake in neuronal cells at rest and under oxidative stress. Oxidative stress was induced with H2O2 for an hour which was followed by supplementation with different ratios of α-TCP and tocotrienol-rich fraction (TRF) for four hours. The cellular levels of vitamin E were quantified to determine bioavailability at cellular levels. The expression levels of TTPA, SEC14L2, and PI-TPNA genes in 0% α-TCP were found to be positively correlated with the levels of vitamin E in resting neuronal cells. In addition, the regulation of all the above-mentioned genes affect the distribution of vitamin E in the neuronal cells. It was observed that, increased levels of α-TCP secretion occur under oxidative stress. Thus, our results showed that in conclusion vitamin E-binding proteins may be modified in the absence of α-TCP to produce tocotrienols (TCT), as a source of vitamin E. The current study suggests that the expression levels of vitamin E transport proteins may influence the cellular concentrations of vitamin E levels in the neuronal cells.
  7. Zainal Z, Rahim AA, Radhakrishnan AK, Chang SK, Khaza'ai H
    Sci Rep, 2019 11 14;9(1):16793.
    PMID: 31727971 DOI: 10.1038/s41598-019-53424-7
    The tocotrienol-rich fraction (TRF) from palm oil contains vitamin E, which possesses potent antioxidant and anti-inflammatory activities. Rheumatoid arthritis (RA) is a chronic joint inflammatory disease characterised by severe joint pain, cartilage destruction, and bone erosion owing to the effects of various pro-inflammatory mediators and cytokines. Here, we investigated the therapeutic effects of TRF in a rat model of collagen-induced arthritis (CIA). Arthritis was induced by a single intradermal injection of collagen type II in Dark Agouti (DA) rats. Rats were then treated with or without TRF by oral gavage from day 28 after the first collagen injection. Arthritic rats supplemented with TRF showed decreased articular index scores, ankle circumferences, paw volumes, and radiographic scores when compared with untreated rats. The untreated arthritic rats showed higher plasma C-reactive protein levels (p changes observed in arthritic rats treated with TRF compared with that in untreated arthritic rats. Overall, the results show that TRF had beneficial effects in this rat model of RA.
  8. Mohd Fudzi L, Zainal Z, Lim HN, Chang SK, Holi AM, Sarif Mohd Ali M
    Materials (Basel), 2018 Apr 29;11(5).
    PMID: 29710822 DOI: 10.3390/ma11050704
    Despite its large band gap, ZnO has wide applicability in many fields ranging from gas sensors to solar cells. ZnO was chosen over other materials because of its large exciton binding energy (60 meV) and its stability to high-energy radiation. In this study, ZnO nanorods were deposited on ITO glass via a simple dip coating followed by a hydrothermal growth. The morphological, structural and compositional characteristics of the prepared films were analyzed using X-ray diffractometry (XRD), field emission scanning electron microscopy (FESEM), and ultraviolet-visible spectroscopy (UV-Vis). Photoelectrochemical conversion efficiencies were evaluated via photocurrent measurements under calibrated halogen lamp illumination. Thin film prepared at 120 °C for 4 h of hydrothermal treatment possessed a hexagonal wurtzite structure with the crystallite size of 19.2 nm. The average diameter of the ZnO nanorods was 37.7 nm and the thickness was found to be 2680.2 nm. According to FESEM images, as the hydrothermal growth temperature increases, the nanorod diameter become smaller. Moreover, the thickness of the nanorods increase with the growth time. Therefore, the sample prepared at 120 °C for 4 h displayed an impressive photoresponse by achieving high current density of 0.1944 mA/cm².
  9. Lee WZ, Chang SK, Khoo HE, Sia CM, Yim HS
    Acta Sci Pol Technol Aliment, 2016 Oct-Dec;15(4):419-428.
    PMID: 28071019 DOI: 10.17306/J.AFS.2016.4.40
    Soursop is a healthy fruit. Peels form about 20% of the soursop fruit and are usually discarded as waste product. With a view to utilizing soursop peel as a source of valuable compounds, this study aimed to investigate the influence of different extraction conditions on total phenolic content (TPC) and antioxidant capacity (AC) of soursop (Annona muricata L.) peel.
  10. Guo HF, Mohd Ali R, Abd Hamid R, Chang SK, Rahman MH, Zainal Z, et al.
    Int J Low Extrem Wounds, 2022 Dec;21(4):544-554.
    PMID: 33241700 DOI: 10.1177/1534734620971066
    Our previous study has demonstrated that epidermal growth factor (EGF) with tocotrienol-rich fraction (TRF) cream formulation accelerating postburn wound healing with deep partial-thickness burn in rats. Current study was conducted to determine the gene expression levels related to burn wound healing process. A total of 180 Sprague-Dawley rats were randomly divided into 6 groups: untreated control, treated with Silverdin cream, base cream, base cream with 0.00075% EGF, base cream with 3% TRF or base cream with 0.00075% EGF, and 3% TRF, respectively. Burn wounds were created and the above-mentioned creams were applied once daily. Six animals from each group were sacrificed on days 3, 7, 11, 14, and 21 postburn. RNA was extracted from wound tissues and quantitative real-time polymerase chain reaction was performed to analyze the 9 wound healing-related genes against time postburn. Results demonstrated that topically applied EGF + TRF formulation downregulated the expression levels of IL-6 (interluekin-6), TNF-α (tumor necrosis factor-α) and iNOS (inducible nitric oxide synthase) throughout the whole healing process. TGF-β1 (transforming growth factor-β) and VEGF-A (vascular endothelial growth factor-A) were reduced on day 14 postburn. On the contrary, increased expression of Collagen-1 in the early stage of wound healing was observed with no effects on epidemal growth factor receptor (EGFR). The results showed beneficial application of EGF + TRF cream in the treatment of burn wound since it accelerated wound healing by relieving oxidative stress, decreasing inflammation, and promoting proper tissue modelling in the burn wound.
  11. Yap PS, Cheng WH, Chang SK, Lim SE, Lai KS
    Cells, 2022 Sep 26;11(19).
    PMID: 36230959 DOI: 10.3390/cells11192995
    There has been a resurgence in the clinical use of polymyxin antibiotics such as colistin due to the limited treatment options for infections caused by carbapenem-resistant Enterobacterales (CRE). However, this last-resort antibiotic is currently confronted with challenges which include the emergence of chromosomal and plasmid-borne colistin resistance. Colistin resistance in Klebsiella pneumoniae is commonly caused by the mutations in the chromosomal gene mgrB. MgrB spans the inner membrane and negatively regulates PhoP phosphorylation, which is essential for bacterial outer membrane lipid biosynthesis. The present review intends to draw attention to the role of mgrB chromosomal mutations in membrane permeability in K. pneumoniae that confer colistin resistance. With growing concern regarding the global emergence of colistin resistance, deciphering physical changes of the resistant membrane mediated by mgrB inactivation may provide new insights for the discovery of novel antimicrobials that are highly effective at membrane penetration, in addition to finding out how this can help in alleviating the resistance situation.
  12. Phuah YQ, Chang SK, Ng WJ, Lam MQ, Ee KY
    Food Res Int, 2023 Aug;170:113007.
    PMID: 37316075 DOI: 10.1016/j.foodres.2023.113007
    This review discussed the origin, manufacturing process, chemical composition, factors affecting quality and health benefits of matcha (Camellia sinensis), and the application of chemometrics and multi-omics in the science of matcha. The discussion primarily distinguishes between matcha and regular green tea with processing and compositional factors, and demonstrates beneficial health effects of consuming matcha. Preferred Reporting Items for Systematic Reviews and Meta-Analyses was adopted to search for relevant information in this review. Boolean operators were incorporated to explore related sources in various databases. Notably, climate, cultivar, maturity of tea leaves, grinding process and brewing temperature impact on the overall quality of matcha. Besides, sufficient shading prior to harvesting significantly increases the contents of theanine and chlorophyll in the tea leaves. Furthermore, the ground whole tea leaf powder delivers matcha with the greatest benefits to the consumers. The health promoting benefits of matcha are mainly contributed by its micro-nutrients and the antioxidative phytochemicals, specifically epigallocatechin-gallate, theanine and caffeine. Collectively, the chemical composition of matcha affected its quality and health benefits significantly. To this end, more studies are required to elucidate the biological mechanisms of these compounds for human health. Chemometrics and multi-omics technologies are useful to fill up the research gaps identified in this review.
  13. Abdul Kalam Saleena L, Chang SK, Simarani K, Arunachalam KD, Thammakulkrajang R, How YH, et al.
    Crit Rev Microbiol, 2023 Aug 08.
    PMID: 37551693 DOI: 10.1080/1040841X.2023.2243617
    Recently, more consumers are interested in purchasing probiotic food and beverage products that may improve their immune health. The market for functional foods and beverages that include Bifidobacterium is expanding because of their potential uses in both food and therapeutic applications. However, maintaining Bifidobacterium's viability during food processing and storage remains a challenge. Microencapsulation technique has been explored to improve the viability of Bifidobacterium. Despite the technical, microbiological, and economic challenges, the market potential for immune-supporting functional foods and beverages is significant. Additionally, there is a shift toward postbiotics as a solution for product innovation, a promising postbiotic product that can be incorporated into various food and beverage formats is also introduced in this review. As consumers become more health-conscious, future developments in the functional food and beverage market discussed in this review could serve as a reference for researchers and industrialist.
  14. Bo S, Chang SK, Chen Y, Sheng Z, Jiang Y, Yang B
    Crit Rev Food Sci Nutr, 2024;64(9):2490-2512.
    PMID: 36123801 DOI: 10.1080/10408398.2022.2124396
    Rare flavonoids, a special subclass of naturally occurring flavonoids with diverse structures including pterocarpans, aurones, neoflavonoids, homoisoflavones, diphenylpropanes, rotenoids and 2-phenylethyl-chromones. They are mainly found in legumes with numerous health benefits. Rare flavonoids are regarded as minor flavonoids due to their very limited abundance in nature. This review gives an overview of the natural occurrences of rare flavonoids from previous literatures. Recent findings on the biosynthesis of rare flavonoids have been updated by describing their structural characteristics and classifications. Recent findings on the health benefits of rare flavonoids have also been compiled and discussed. Natural rare flavonoids with various characteristics from different subclasses from plant-based food sources are stated. They show a wide range of health benefits, including antibacterial, anticancer, anti-osteoporosis and antiviral activities. Studies reviewed suggest that rare flavonoids possessing different skeletons demonstrate different characteristic bioactivities by discussing their mechanism of actions and structure-activity relationships. Besides, recent advances on the biosynthesis of rare flavonoids, such as pterocarpans, rotenoids and aurones are well-known, while the biosynthesis of other subclasses remain unknown. The perspectives and further applications of rare flavonoids using metabolic engineering strategies also be expected.
  15. Chin SP, Poey AC, Wong CY, Chang SK, Tan CS, Ng MT, et al.
    Cytotherapy, 2011 Aug;13(7):814-21.
    PMID: 21526902 DOI: 10.3109/14653249.2011.574118
    BACKGROUND AIMS: Mesenchymal stromal cells (MSC) may improve cardiac function following myocardial infarction. MSC can differentiate into cardiomyocytes and endothelial cells while exerting additional paracrine effects. There is limited information regarding the efficacy of route for MSC treatment of severe dilated cardiomyopathy (DCM). The aim of this study was to demonstrate the clinical safety, feasibility and efficacy of direct intramyocardial and intracoronary administration of autologous bone marrow-derived MSC treatment for no-option patients with chronic severe refractory DCM.

    METHODS: Ten symptomatic patients with DCM and refractory cardiac function, despite maximum medical therapy, were selected. Five had ischemic DCM deemed unlikely to benefit from revascularization alone and underwent bypass operations with concurrent intramyocardial MSC injection (group A). Two patients had previous revascularization and three had non-ischemic DCM and received intracoronary MSC injection (group B).

    RESULTS: Group A and B patients received 0.5-1.0 × 10(6) and 2.0-3.0 × 10(6) MSC/kg body weight, respectively. All patients remained alive at 1 year. There were significant improvements from baseline to 6 and 12 months in left ventricular ejection fraction and other left ventricular parameters. Scar reduction was noted in six patients by 12 months.

    CONCLUSIONS: Autologous bone marrow MSC treatment is safe and feasible for treating chronic severe refractory DCM effectively, via intracoronary or direct intramyocardial administration at prescribed doses.

  16. Alessandro L, Low KE, Abushelaibi A, Lim SE, Cheng WH, Chang SK, et al.
    Int J Mol Sci, 2022 Nov 18;23(22).
    PMID: 36430761 DOI: 10.3390/ijms232214285
    The diagnosis of endometrial cancer involves sequential, invasive tests to assess the thickness of the endometrium by a transvaginal ultrasound scan. In 6−33% of cases, endometrial biopsy results in inadequate tissue for a conclusive pathological diagnosis and 6% of postmenopausal women with non-diagnostic specimens are later discovered to have severe endometrial lesions. Thus, identifying diagnostic biomarkers could offer a non-invasive diagnosis for community or home-based triage of symptomatic or asymptomatic women. Herein, this study identified high-risk pathogenic nsSNPs in the NRAS gene. The nsSNPs of NRAS were retrieved from the NCBI database. PROVEAN, SIFT, PolyPhen-2, SNPs&GO, PhD-SNP and PANTHER were used to predict the pathogenicity of the nsSNPs. Eleven nsSNPs were identified as “damaging”, and further stability analysis using I-Mutant 2.0 and MutPred 2 indicated eight nsSNPs to cause decreased stability (DDG scores < −0.5). Post-translational modification and protein−protein interactions (PPI) analysis showed putative phosphorylation sites. The PPI network indicated a GFR-MAPK signalling pathway with higher node degrees that were further evaluated for drug targets. The P34L, G12C and Y64D showed significantly lower binding affinity towards GTP than wild-type. Furthermore, the Kaplan−Meier bioinformatics analyses indicated that the NRAS gene deregulation affected the overall survival rate of patients with endometrial cancer, leading to prognostic significance. Findings from this could be considered novel diagnostic and therapeutic markers.
  17. Samsudin NA, Zainal Z, Lim HN, Sulaiman Y, Chang SK, Lim YC, et al.
    RSC Adv, 2018 Jun 21;8(41):23040-23047.
    PMID: 35540159 DOI: 10.1039/c8ra03513j
    In this study, a composite material, manganese oxide/reduced titania nanotubes (Mn2O3/R-TNTs), was synthesized through incorporation of Mn2O3 onto R-TNTs via the reverse pulse electrodeposition technique. The influence of pulse reverse duty cycles on the morphological, structural and electrochemical performance of the surface was studied by varying the applied duty cycle from 10% to 90% for 5 min total on-time at an alternate potential of -0.90 V (E on) and 0.00 V (E off). FESEM analysis revealed the uniform deposition of Mn2O3 on the circumference of the nanotubes. The amount of Mn2O3 loaded onto the R-TNTs increased as a higher duty cycle was applied. Cyclic voltammetry and galvanostatic charge-discharge tests were employed to elucidate the electrochemical properties of all the synthesized samples in 1 M KCl. The specific capacitance per unit area was greatly enhanced upon the incorporation of Mn2O3 onto R-TNTs, but showed a decrease as a high duty cycle was applied. This proved that low amounts of Mn2O3 loading enhanced the facilitation of the active ions for charge storage purposes. The optimized sample, Mn2O3/R-TNTs synthesized at 10% duty cycle, exhibited high specific capacitance of 18.32 mF cm-2 at a current density of 0.1 mA cm-2 obtained from constant current charge-discharge measurements. This revealed that the specific capacitance possessed by Mn2O3/R-TNTs synthesized at 10% duty cycle was 6 times higher than bare R-TNTs.
  18. Yang J, Gao Z, Yu Z, Hou Y, Tang D, Yan H, et al.
    PMID: 37599623 DOI: 10.1080/10408398.2023.2248244
    Aurones are a subclass of active flavonoids characterized with a scaffold of 2-benzylidene-3(2H)-benzofuranone. This type of chemicals are widely distributed in fruit, vegetable and flower, and contribute to human health. In this review, we summarize the natural aurones isolated from dietary plants. Their positive effects on immunomodulation, antioxidation, cancer prevention as well as maintaining the health status of cardiovascular, nervous system and liver organs are highlighted. The biosynthesis strategies of plant-derived aurones are elaborated to provide solutions for their limited natural abundance. The potential application of natural aurones in food coloration are also discussed. This paper combines the up-to-date information and gives a full image of dietary aurones.
  19. Razip NNM, Gopalsamy B, Abdul Mutalib MS, Chang SK, Abdullah MMJA, Azlan A, et al.
    Nutrients, 2021 Jul 01;13(7).
    PMID: 34371798 DOI: 10.3390/nu13072288
    An overview of vitamins D3 and E suggests micronutrient deficiency contributes to type 2 diabetes mellitus (T2DM). A case-control study was conducted to determine the status of plasma vitamins D3 and E isomers amongst diabetic Malaysians. Two groups were recruited for participation, one comprising fifty diabetic subjects (DM) and one comprising fifty non-diabetic (non-DM) subjects, in order to assess their plasma vitamin D3, calcium and vitamin E status. Glycaemic status (haemoglobin A1c, HbA1c; fasting blood glucose, FBG; C-Peptide) and lipid profiles (total cholesterol, TC; triglycerides, TG; low-density lipoprotein-cholesterol, LDL-C; high-density lipoprotein-cholesterol, HDL-C) were assessed, followed by anthropometric measurements. The Mann-Whitney U-test, Kruskal-Wallis and Spearman's correlation coefficient were used to elucidate the association between levels of plasma vitamins D3 and E and T2DM. The vitamin D3 deficiency group (<20 ng/mL) showed a significant correlation (p < 0.05) with glycaemic status (HbA1c and FBG) and lipid profiles (HDL-C, LDL and TC). Spearman's correlation demonstrated that vitamin D3 status is strongly correlated with HDL levels (p < 0.05). Similarly, plasma total vitamin E levels >4.9 μg/mL revealed significantly different FBG, HbA1c, C-Peptide, LDL, HDL and TC levels across both groups. Moreover, family history, smoking, waist circumference and HbA1c levels demonstrated a significant association (p < 0.05) with levels of vitamins D and E but not FBG and lipid profiles. This could be because the pre-diabetic status among the non-DM group influenced the outcomes of this study.
  20. Liang KH, Lu YH, Niu CW, Chang SK, Chen YR, Cheng CY, et al.
    J Hum Genet, 2020 Jul;65(7):619-625.
    PMID: 32246049 DOI: 10.1038/s10038-020-0745-7
    The Fabry disease-causing mutation, the GLA IVS4+919G>A (designated GLA IVS4), is very prevalent in patients with hypertrophic cardiomyopathy in Taiwan. This X-linked mutation has also been found in patients in Kyushu, Japan and Southeast Asia. To investigate the age and the possible ancestral origin of this mutation, a total of 33 male patients with the GLA IVS4+919G>A mutation, born in Taiwan, Japan, Singapore, Malaysia, Vietnam, and the Fujian and Guangdong provinces of China, were studied. Peripheral bloods were collected, and the Ilumina Infinium CoreExome-24 microarray was used for dense genotyping. A mutation-carrying haplotype was discovered which was shared by all 33 patients. This haplotype does not exist in 15 healthy persons without the mutation. Rather, a wide diversity of haplotypes was found in the vicinity of the mutation site, supporting the existence of a single founder of the GLA IVS4 mutation. The age of the founder mutation was estimated by the lengths of the mutation-carrying haplotypes based on the linkage-disequilibrium decay theory. The first, second, and third quartile of the age estimates are 800.7, 922.6, and 1068.4 years, respectively. We concluded that the GLA IVS4+919G>A mutation originated from a single mutational event that occurred in a Chinese chromosome more than 800 years ago.
Related Terms
Filters
Contact Us

Please provide feedback to Administrator (afdal@afpm.org.my)

External Links