Defective ATP breakdown activity related to an: ENTPD1 gene mutation demonstrated using 31P NMR spectroscopy

Atara Nardi-Schreiber, Gal Sapir, Ayelet Gamliel, Or Kakhlon, Jacob Sosna, J. Moshe Gomori, Vardiella Meiner, Alexander Lossos, Rachel Katz-Brull*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

12 Scopus citations

Abstract

The ecto-nucleoside triphosphate diphosphohydrolase-1 (E-NTPDase-1, CD39) enzyme is responsible for the breakdown of extracellular ATP to ADP and then to AMP by a two-step process. Defective CD39 activity has been described in a variety of medical conditions including malignancy and rheumatic diseases and has been proved to be of major diagnostic and clinical importance. Here we show for the first time that a 31P NMR spectroscopy methodology enables the quantification of these two steps in a single blood sample. We have applied this assay to determine the E-NTPDase activity on human mononuclear cells taken from two siblings affected by a stop-codon mutation in the ENTPD1 gene, their obligatory heterozygous parents, and healthy volunteers. The affected subjects presented low ATP breakdown activity, mainly expressed as low AMP production.

Original languageEnglish
Pages (from-to)9121-9124
Number of pages4
JournalChemical Communications
Volume53
Issue number65
DOIs
StatePublished - 2017

Bibliographical note

Publisher Copyright:
© 2017 The Royal Society of Chemistry.

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