Endemic Polycythemia in Russia: Mutation in the VHL Gene
Abstract
Chuvash polycythemia (CP) is an autosomal recessive condition that is endemic in the Russian mid-Volga River region of Chuvashia. We previously found that CP patients may have increased serum erythropoietin (EPO) levels, ruled out linkage to both the EPO and EPO receptor (EPOR) gene loci, and hypothesized that the defect may lie in the oxygen homeostasis pathway. We now report a study of five multiplex Chuvash families which confirms that CP is associated with significant elevations of serum EPO levels and rules out a location for the CP gene on chromosome 11 as had been reported by other investigators or a mutation of the HIF-1 alpha gene. Using a genome-wide screen, we localized a region on chromosome 3 with a LOD score >2. After sequencing three candidate genes, we identified a C to T transition at nucleotide 598 (an R200W mutation) in the von Hippel-Lindau (VHL) gene. The VHL protein (pVHL) downregulates the alpha subunit of hypoxia-inducible factor 1 (HIF-1 alpha), the main regulator of hypoxia adaptation, by targeting the protein for degradation. In the simplest scenario, disruption of pVHL function causes a failure to degrade HIF-1 alpha resulting in accumulation of HIF-1 alpha, upregulation of downstream target genes such as EPO, and the clinical manifestation of polycythemia. These findings strongly suggest that CP is a congenital disorder of oxygen homeostasis.
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Chuvash polycythemia is caused by a homozygous mutation in VHL at codon 200, R200W.
“It is caused by a homozygous mutation in the VHL tumor suppressor at codon 200, R200W”
From Regulation of erythropoiesis by hypoxia-inducible factors (2013) · cites this paper as [125]
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- Authors
- Ang, S. O., Chen, H., Gordeuk, V. R., Sergueeva, A. I., Polyakova, L. A., Miasnikova, G. Y., Kralovics, R., Stockton, D. W., & Prchal, J. T.
- Affiliations
- Baylor College of Medicine (US)
- Howard University (US)
- Chuvash State University (RU)
- Venue
- Blood Cells, Molecules, and Diseases
- Publisher
- Elsevier BV
- Published
- 2002-01
- Volume
- 28
- Issue
- 1
- Pages
- 57-62
- ISSN
- 1079-9796 (ISSN-L)
- OpenAlex
- W2077110395
- Cited by
- 135
- References
- 17
- Citations by year
- 2025: 2 · 2024: 4 · 2023: 8 · 2022: 2 · 2021: 7 · 2020: 6 · 2019: 4 · 2018: 3 · 2017: 4 · 2016: 5 · 2015: 2 · 2014: 5 · 2013: 7 · 2012: 7
- FWCI
- 4.62
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Blood Cells Molecules and Diseases (publishedVersion)
- PubMed (publishedVersion)
- Digital Howard (Howard University) (submittedVersion)
- Funders
- National Heart, Lung, and Blood Institute (UH1 HL03679-03, R01HL5007-08, UH1HL003679, R01HL066333, R01HL66333-01)
- Topics
- Health Sciences › Medicine › Hematology › Erythropoietin and Anemia Treatment
- Health Sciences › Medicine › Genetics › Hemoglobinopathies and Related Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Cancer Research › Cancer, Hypoxia, and Metabolism
- Keywords
- Chuvash polycythemia, von Hippel-Lindau gene, hypoxia-inducible factor-1α, erythropoietin, oxygen homeostasis, chromosome 3, Chuvash Republic, multiplex families
- MeSH terms
- Chromosomes, Human, Pair 3, DNA Mutational Analysis, Erythropoietin, Family Health, Humans, Ligases, Genetic Linkage, Pedigree, Polycythemia, Russia, Transcription Factors, Point Mutation, Endemic Diseases, Tumor Suppressor Proteins, Ubiquitin-Protein Ligases, Von Hippel-Lindau Tumor Suppressor Protein, Hypoxia-Inducible Factor 1, alpha Subunit
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