Polymorphic variants of alkaline phosphatase gene correlate with clinical signs of adult hypophosphatasia?
ALPL gene
Alkaline phosphatase
Differential diagnosis
Hyphophosphatasia
Polymorphic variants
Journal
Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA
ISSN: 1433-2965
Titre abrégé: Osteoporos Int
Pays: England
ID NLM: 9100105
Informations de publication
Date de publication:
Dec 2021
Dec 2021
Historique:
received:
25
06
2020
accepted:
15
02
2021
pubmed:
8
6
2021
medline:
25
11
2021
entrez:
7
6
2021
Statut:
ppublish
Résumé
We analyzed polymorphism of the ALPL gene in patients with low serum levels of tissue-nonspecific alkaline phosphatase (TNAP). The presence of three or more of the less frequent alleles of ALPL polymorphisms was associated with significantly lower TNAP serum level and higher frequencies of metatarsal fractures, which may help confirm a clinical suspicion of adult hypophosphatasia. Alkaline phosphatases (ALPs) are membrane-bound enzymes that hydrolyze monophosphate esters at a high pH (pH 8-10). Inorganic pyrophosphate, pyridoxal 5-phosphate, the activated form of vitamin B Genomic DNA was extracted from peripheral blood and ALPL gene was sequenced by PCR-based Sanger technique. Fourteen different polymorphic variants were found in the study population. A lower serum level of TNAP and higher frequencies of metatarsal fractures were observed in patients bearing three or more of the minor frequency alleles (MFAs) of the ALPL polymorphic variants. The presence of some MFAs, mostly as a contemporary presence of three or more of them, was found to be mainly represented in patients having both a significantly lower level of TNAP and a higher level of vitamin B6. The genetic analysis and presence of some polymorphic variants may be an instrument to confirm clinical and biochemical data, consider adult HPP, and help clinicians be cautious in the administration of anti-reabsorption drugs.
Identifiants
pubmed: 34097127
doi: 10.1007/s00198-021-05893-8
pii: 10.1007/s00198-021-05893-8
pmc: PMC8608776
doi:
Substances chimiques
Pyridoxal Phosphate
5V5IOJ8338
Alkaline Phosphatase
EC 3.1.3.1
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
2461-2472Subventions
Organisme : Alexion Pharmaceuticals
ID : MIG-100186
Informations de copyright
© 2021. The Author(s).
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