ArticleBMC genetics2015
Increased glycolipid storage produced by the inheritance of a complex intronic haplotype in the α-galactosidase A (GLA) gene.
Article in BMC genetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed, 23 citations in OpenAlex.
- Newborn screening for Fabry disease in the north-west of Spain.European journal of pediatrics · 2017Trial
- Potential Pathogenetic Role of the D313Y Mutation in theInternational journal of molecular sciences · 2025Article
- Fabry disease in female monozygotic twins with complex intronic haplotype variants: a case report.BMC medical genomics · 2024Article
- Late-onset and classic phenotypes of Fabry disease in males with theOpen heart · 2023Article
- Frequency of Fabry disease in a juvenile idiopathic arthritis cohort.Pediatric rheumatology online journal · 2021Article
- Proteostasis regulators modulate proteasomal activity and gene expression to attenuate multiple phenotypes in Fabry disease.The Biochemical journal · 2020Article
- Correlation between GLA variants and alpha-Galactosidase A profile in dried blood spot: an observational study in Brazilian patients.Orphanet journal of rare diseases · 2020Observational
- Effectiveness of plasma lyso-Gb3 as a biomarker for selecting high-risk patients with Fabry disease from multispecialty clinics for genetic analysis.Genetics in medicine : official journal of the American College of Medical Genetics · 2019Article
- Multiple phenotypic domains of Fabry disease and their relevance for establishing genotype- phenotype correlations.The application of clinical genetics · 2019Review
- Low frequency of Fabry disease in patients with common heart disease.Genetics in medicine : official journal of the American College of Medical Genetics · 2018Article
- Fabry disease in the Spanish population: observational study with detection of 77 patients.Orphanet journal of rare diseases · 2018Observational
- Inhibition of Intermediate-Conductance Calcium-Activated K Channel (KCa3.1) and Fibroblast Mitogenesis by α-Linolenic Acid and Alterations of Channel Expression in the Lysosomal Storage Disorders, Fabry Disease, and Niemann Pick C.Frontiers in physiology · 2017Article
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Authors and funding
10 authors at 5 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundAccumulation of galactosphingolipids is a general characteristic of Fabry disease, a lysosomal storage disorder caused by the deficient activity of α-galactosidase A encoded by the GLA gene. Although many polymorphic GLA haplotypes have been described, it is still unclear whether some of these variants are causative of disease symptoms. We report the study of an inheritance of a complex intronic haplotype (CIH) (c.-10C > T, c.369 + 990C > A, c.370-81_370-77delCAGCC, c.640-16A > G, c.1000-22C > T) within the GLA gene associated with Fabry-like symptoms and galactosphingolipid accumulation. We analysed α-Gal A activity in plasma, leukocytes and skin fibroblasts in patients, and measured accumulation of galactosphingolipids by enzymatic methods and immunofluorescence techniques. Additionally, we evaluated GLA expression using quantitative PCR, EMSA, and cDNA cloning.
resultsCIH carriers had an altered GLA expression pattern, although most of the carriers had high residual enzyme activity in plasma, leukocytes and in skin fibroblasts. Nonetheless, CIH carriers had significant galactosphingolipid accumulation in fibroblasts in comparison with controls, and also glycolipid deposits in renal tubules and glomeruli. EMSA assays indicated that the c.-10C > T variant in the promoter affected a nuclear protein binding site.
conclusionsThus, inheritance of the CIH caused an mRNA deregulation altering the GLA expression pattern, producing a tissue glycolipid storage.
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