Disturbance in the HIF-1α pathway associated with erythrocytosis: Further evidences brought by frameshift and nonsense mutations in the prolyl hydroxylase domain protein 2 (PHD2) gene

Al-Sheikh, Maha; Moradkhani, Kamran; Lopez, Marc; Wajcman, Henri; Préhu, Claude

doi:10.1016/j.bcmd.2007.07.017

Cited by 50Erythropoietin and Anemia TreatmentCancer, Hypoxia, and MetabolismHemoglobinopathies and Related Disorders

Disturbance in the HIF-1α pathway associated with erythrocytosis: Further evidences brought by frameshift and nonsense mutations in the prolyl hydroxylase domain protein 2 (PHD2) gene

Al-Sheikh, Maha, Moradkhani, Kamran, Lopez, Marc, Wajcman, Henri, Préhu, Claude·2008·Blood Cells Molecules and Diseases

DOI 10.1016/j.bcmd.2007.07.017

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Abstract

The hypoxia-inducible factor HIF-1 is the key regulator in cellular adaptation to hypoxia. Acting through a complex pathway, interconnected with VHL and kinases, it regulates a large number of genes, such as those involved in erythropoiesis, glycolysis, pH regulation, and angiogenesis. Recently, a missense mutation [c.950C>G (p.Pro317Arg)] in the prolyl hydroxylase domain protein 2 (PHD2) gene, whose encoded protein has HIF-1alpha as a substrate, provided evidence of the PHD2 role in a case of familial erythrocytosis. In this study, we looked for mutations in the PHD2 gene, in 74 patients with unidentified erythrocytosis. We found two heterozygous carriers of frameshift mutations [c.606delG (p.Met202IlefsX71) and c.840_841insA (p.Arg281ThrfsX3)]; both located in exon 1 and a heterozygous carrier of a nonsense mutation [c.1129C>T (p. Gln377X)] in exon 3. As a result of these mutations the encoded PHD2, if synthesized, would lose its catalytic activity. The genetic defects herein described are the first frameshift and nonsense mutations reported in the PHD2 gene and, as the previous missense mutation described, suggest that a decreased prolyl hydroxylase activity disturbing the oxygen-sensing pathway might be the cause of erythrocytosis. In addition to erythrocytosis, other complications, such as inflammatory arthromyalgia, have been observed in one case.

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Patients heterozygous for PHD2 mutations are characterized by increased red blood cell values with inappropriately normal serum EPO levels.
“Patients, who were heterozygous for these mutations were characterized by increased rbc values in the presence of inappropriately normal serum EPO levels. 157–162”
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Isolated erythrocytosis: study of 67 patients and identification of three novel germ-line mutations in the prolyl hydroxylase domain protein 2 (PHD2) gene
Albiero, E., Ruggeri, M., Fortuna, S., Finotto, S., Bernardi, M., Madeo, D., & Rodeghiero, F. (2012) · Haematologica · doi:10.3324/haematol.2010.039545 · Cited by 28 · see citing works
Two new mutations in the HIF2A gene associated with erythrocytosis
Percy, M. J., Chung, Y. J., Harrison, C., Mercieca, J., Hoffbrand, A. V., Dinardo, C. L., Santos, P. C. J. L., Fonseca, G. H. H., Gualandro, S. F. M., Pereira, A. C., et al. (2012) · American Journal of Hematology · doi:10.1002/ajh.23123 · Cited by 37 · see citing works
Familial Erythrocytosis Associated with a Mutation in the HIF Prolyl Hydroxylase, PHD2.
Percy, M. J., Zhao, Q., Flores, A., Harrison, C. N., Lappin, T. R. J., Maxwell, P. H., McMullin, M. F., & Lee, F. (2005) · Blood · doi:10.1182/blood.v106.11.127.127 · Cited by 2 · see citing works
Update on mutations in the HIF: EPO pathway and their role in erythrocytosis
Lappin, T. R. J., & Lee, F. S. (2019) · Blood Reviews · doi:10.1016/j.blre.2019.100590 · Cited by 82 · see citing works
Erythrocytosis associated with a novel missense mutation in the HIF2A gene
van Wijk, R., Sutherland, S., Van Wesel, A. C. W., Huizinga, E. G., Percy, M. J., Bierings, M., & Lee, F. S. (2010) · Haematologica · doi:10.3324/haematol.2009.017582 · Cited by 38 · see citing works

Authors: Al-Sheikh, M., Moradkhani, K., Lopez, M., Wajcman, H., & Préhu, C.
Affiliations: Inserm (FR)
Assistance Publique – Hôpitaux de Paris (FR)
Corresponding author: Al-Sheikh, Maha
ORCID: Moradkhani, Kamran
Lopez, Marc
Venue: Blood Cells Molecules and Diseases
Publisher: Elsevier BV
Published: 2008-03
Volume: 40
Issue: 2
Pages: 160-165
ISSN: 1079-9796 (ISSN-L)
DOI: 10.1016/j.bcmd.2007.07.017
OpenAlex: W2029837857
Cited by: 50
References: 26
Citations by year: 2023: 1 · 2022: 2 · 2021: 1 · 2020: 1 · 2019: 1 · 2017: 2 · 2016: 3 · 2014: 4 · 2013: 2 · 2012: 1
FWCI: 5.29
Type: journal article
Language: en
Open access: closed
Licence: www.elsevier.com/tdm/userlicense/1.0/ (tdm)
www.elsevier.com/legal/tdmrep-license (tdm)
Locations: Blood Cells Molecules and Diseases (publishedVersion)
PubMed (publishedVersion)
Topics: Health Sciences › Medicine › Hematology › Erythropoietin and Anemia Treatment
Life Sciences › Biochemistry, Genetics and Molecular Biology › Cancer Research › Cancer, Hypoxia, and Metabolism
Health Sciences › Medicine › Genetics › Hemoglobinopathies and Related Disorders
Keywords: erythrocytosis, HIF-1α, hypoxia-inducible factor pathway, frameshift mutation, nonsense mutation, missense mutations, oxygen sensing, familial erythrocytosis, arthromyalgia, genetic disorders
MeSH terms: Adolescent, Adult, Aged, Aged, 80 and over, Child, Female, Hemoglobins, Heterozygote, Humans, Male, Middle Aged, Polycythemia, Procollagen-Proline Dioxygenase, Frameshift Mutation, Codon, Nonsense, Hypoxia-Inducible Factor 1, alpha Subunit, Hypoxia-Inducible Factor-Proline Dioxygenases

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Disturbance in the HIF-1α pathway associated with erythrocytosis: Further evidences brought by frameshift and nonsense mutations in the prolyl hydroxylase domain protein 2 (PHD2) gene

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