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. 2017 Aug 10;53(65):9121-9124.
doi: 10.1039/c7cc00426e.

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

Atara Nardi-Schreiber  1 , Gal Sapir, Ayelet Gamliel, Or Kakhlon, Jacob Sosna, J Moshe Gomori, Vardiella Meiner, Alexander Lossos, Rachel Katz-Brull
Affiliations

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

Atara Nardi-Schreiber et al. Chem Commun (Camb). .

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.

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