FAM111A is dispensable for electrolyte homeostasis in mice

Barnabas P. Ilenwabor, Heidi Schigt, Andreas Kompatscher, Caro Bos, Malou Zuidscherwoude, Bram C.J. van der Eerden, Joost G.J. Hoenderop, Jeroen H.F. de Baaij*

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

1 Downloads (Pure)

Abstract

Autosomal dominant mutations in FAM111A are causative for Kenny-Caffey syndrome type 2. Patients with Kenny-Caffey syndrome suffer from severe growth retardation, skeletal dysplasia, hypoparathyroidism, hypocalcaemia, hyperphosphataemia and hypomagnesaemia. While recent studies have reported FAM111A to function in antiviral response and DNA replication, its role in regulating electrolyte homeostasis remains unknown. In this study, we assessed the role of FAM111A in the regulation of serum electrolyte balance using a Fam111a knockout (Fam111a−/−) C57BL/6 N mouse model. Fam111a−/− mice displayed normal weight and serum parathyroid hormone (PTH) concentration and exhibited unaltered magnesium, calcium and phosphate levels in serum and 24-hour urine. Expression of calciotropic (including Cabp28k, Trpv5, Klotho and Cyp24a1), magnesiotropic (including Trpm6, Trpm7, Cnnm2 and Cnnm4) and phosphotropic (Slc20a1, Slc20a2, Slc34a1 and Slc34a3) genes in the kidneys, duodenum and colon were not affected by Fam111a depletion. Only Slc34a2 expression was significantly upregulated in the duodenum, but not in the colon. Analysis of femurs showed unaffected bone morphology and density in Fam111a−/− mice. Kidney and parathyroid histology were also normal in Fam111a−/− mice. In conclusion, our study is the first to characterise the function of FAM111A in vivo and we report that mice lacking FAM111A exhibit normal electrolyte homeostasis on a standard diet.

Original languageEnglish
Article number10211
JournalScientific Reports
Volume12
Issue number1
DOIs
Publication statusPublished - 17 Jun 2022

Bibliographical note

Funding Information:
This work was funded by the Dutch Kidney Foundation (project code 19OP004) and supported by a postgraduate funding awarded to B.P.I. from the Niger Delta Development Commission (NDDC), Nigeria.

Publisher Copyright: © 2022, The Author(s).

Fingerprint

Dive into the research topics of 'FAM111A is dispensable for electrolyte homeostasis in mice'. Together they form a unique fingerprint.

Cite this