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Genetic, Genomic and Epigenomic Studies of Balkan Endemic Nephropathy (Ben)
- Source :
- Prilozi (Makedonska akademija na naukite i umetnostite. Oddelenie za medicinski nauki). 36(2)
- Publication Year :
- 2016
-
Abstract
- BEN is a primary, chronic tubulointerstitial nephritis characterized with chronic anemia, absence of edema, xantoderma, normal blood pressure and normal findings on the fundus oculi. The disease is distributed in restricted areas in Bulgaria, Romania, Croatia, Bosnia, Former Yugoslavia. Despite numerous studies on genetic and environmental factors and their possible involvement in BEN, its etiopathogenesis still remains elusive. Our recent study aim to elucidate the possible epigenetic component in BEN development. Whole genome DNA array methylation analysis was applied to compare the methylation profiles of male and female BEN patients from endemic regions in Bulgaria and Serbia and healthy controls. All three most prominent candidate genes with aberrations in the epigenetic profile discovered with this study are involved in the inflammatory/immune processes and oncogenesis. These data are in concordance with the reported pathological alterations in BEN. This research supports the role of epigenetic changes in BEN pathology. Exome sequencing of 22.000 genes with Illumina Nextera Exome Enrichment Kit revealed three mutant genes (CELA1, HSPG2, and KCNK5) in BEN patients which encode proteins involved in basement membrane/extracellular matrix and vascular tone, tightly connected to process of angiogenesis. We suggest that an abnormal process of angiogenesis plays a key role in the molecular pathogenesis of BEN.
- Subjects :
- Epigenomics
Genetic Markers
Male
Candidate gene
Balkan Nephropathy
DNA Mutational Analysis
Biology
medicine.disease_cause
Epigenesis, Genetic
Potassium Channels, Tandem Pore Domain
Risk Factors
medicine
Epigenetic Profile
Humans
Exome
Genetic Predisposition to Disease
Epigenetics
Bulgaria
Gene
Exome sequencing
Genetic Association Studies
Genetics
Pancreatic Elastase
Genome, Human
Gene Expression Profiling
General Medicine
Genomics
DNA Methylation
Phenotype
Case-Control Studies
Mutation
Female
Carcinogenesis
Serbia
Heparan Sulfate Proteoglycans
Subjects
Details
- ISSN :
- 18579345
- Volume :
- 36
- Issue :
- 2
- Database :
- OpenAIRE
- Journal :
- Prilozi (Makedonska akademija na naukite i umetnostite. Oddelenie za medicinski nauki)
- Accession number :
- edsair.doi.dedup.....0b7c4c344dda6b6dc757d283c211bbb0