Systemic effects of hypophosphatasia characterization of two novel variants in the ALPL gene.

ABSTRACT:

Introduction

Hypophosphatasia (HPP) is an inborn metabolic error caused by mutations in the ALPL gene encoding tissue non-specific alkaline phosphatase (TNSALP) and leading to decreased alkaline phosphatase (ALP) activity. Although the main characteristic of this disease is bone involvement, it presents a great genetic and clinical variability, which makes it a systemic disease.

Methods

Patients were recruited based on biochemical assessments. Diagnosis was made by measuring serum ALP and pyridoxal 5-phosphate levels and finally by Sanger sequencing of the ALPL gene from peripheral blood mononuclear cells. Characterization of the new variants was performed by transfection of the variants into HEK293T cells, where ALP activity and cellular localization were measured by flow c

SUBMITTER: Martinez-Heredia L 

PROVIDER: S-EPMC10792043 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature