The ABCC6 transporter: A new player in biomineralization

Guillaume Favre, Audrey Laurain, T. Arányi, Flora Szeri, Krisztina Fulop, Olivier Le Saux, Christophe Duranton, Gilles Kauffenstein, Ludovic Martin, Georges Lefthériotis

Research output: Contribution to journalReview article

8 Citations (Scopus)

Abstract

Pseudoxanthoma elasticum (PXE) is an inherited metabolic disease with autosomal recessive inheritance caused by mutations in the ABCC6 gene. Since the first description of the disease in 1896, alleging a disease involving the elastic fibers, the concept evolved with the further discoveries of the pivotal role of ectopic mineralization that is preponderant in the elastin-rich tissues of the skin, eyes and blood vessel walls. After discovery of the causative gene of the disease in 2000, the function of the ABCC6 protein remains elusive. More than 300 mutations have been now reported and the concept of a dermal disease has progressively evolved toward a metabolic disorder resulting from the remote effects caused by lack of a circulating anti-mineralization factor. Very recently, evidence has accumulated that this anti-mineralizing factor is inorganic pyrophosphate (PPi). This leads to decreased PPi/Pi (inorganic phosphate) ratio that results from the lack of extracellular ATP release by hepatocytes and probably renal cells harboring the mutant ABCC6 protein. However, the mechanism by which ABCC6 dysfunction causes diminished ATP release remains an enigma. Studies of other ABC transporters, such as ABCC7 or ABCC1 could help our understanding of what ABCC6 exact function is. Data and a hypothesis on the possible roles of ABCC6 in acquired metabolic diseases are also discussed.

Original languageEnglish
Article numberA1941
JournalInternational Journal of Molecular Sciences
Volume18
Issue number9
DOIs
Publication statusPublished - Sep 11 2017

Fingerprint

Biomineralization
transporter
metabolic diseases
Metabolic Diseases
adenosine triphosphate
mutations
Adenosine Triphosphate
Pseudoxanthoma Elasticum
genes
vessels
Mutation
Elastic Tissue
ATP-Binding Cassette Transporters
Elastin
Adenosinetriphosphate
Genetic Association Studies
Mutant Proteins
elastin
proteins
Skin Diseases

Keywords

  • ABC transporter
  • Arterial calcifications
  • Chronic kidney disease
  • Inorganic pyrophosphate
  • Pseudoxanthoma elasticum

ASJC Scopus subject areas

  • Catalysis
  • Molecular Biology
  • Spectroscopy
  • Computer Science Applications
  • Physical and Theoretical Chemistry
  • Organic Chemistry
  • Inorganic Chemistry

Cite this

Favre, G., Laurain, A., Arányi, T., Szeri, F., Fulop, K., Le Saux, O., ... Lefthériotis, G. (2017). The ABCC6 transporter: A new player in biomineralization. International Journal of Molecular Sciences, 18(9), [A1941]. https://doi.org/10.3390/ijms18091941

The ABCC6 transporter : A new player in biomineralization. / Favre, Guillaume; Laurain, Audrey; Arányi, T.; Szeri, Flora; Fulop, Krisztina; Le Saux, Olivier; Duranton, Christophe; Kauffenstein, Gilles; Martin, Ludovic; Lefthériotis, Georges.

In: International Journal of Molecular Sciences, Vol. 18, No. 9, A1941, 11.09.2017.

Research output: Contribution to journalReview article

Favre, G, Laurain, A, Arányi, T, Szeri, F, Fulop, K, Le Saux, O, Duranton, C, Kauffenstein, G, Martin, L & Lefthériotis, G 2017, 'The ABCC6 transporter: A new player in biomineralization', International Journal of Molecular Sciences, vol. 18, no. 9, A1941. https://doi.org/10.3390/ijms18091941
Favre, Guillaume ; Laurain, Audrey ; Arányi, T. ; Szeri, Flora ; Fulop, Krisztina ; Le Saux, Olivier ; Duranton, Christophe ; Kauffenstein, Gilles ; Martin, Ludovic ; Lefthériotis, Georges. / The ABCC6 transporter : A new player in biomineralization. In: International Journal of Molecular Sciences. 2017 ; Vol. 18, No. 9.
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