ANKK1 is found in myogenic precursors and muscle fibers subtypes with glycolytic metabolism

Fecha de publicación: 14/05/2018

Autores de IIS La Fe

Juan Jesús Vílchez Padilla

Autor

Participantes ajenos a IIS La Fe

Rubio-Solsona, E
Marti, S
Palau, F
Hoenicka, J

Grupos

Patología Neuromuscular y Ataxias

Investigador Principal

Teresa Sevilla Mantecón

Abstract

Ankyrin repeat and kinase domain containing 1 (ANKK1) gene has been widely related to neuropsychiatry disorders. The localization of ANKK1 in neural progenitors and its correlation with the cell cycle has suggested its participation in development. However, ANKK1 functions still need to be identified. Here, we have further characterized the ANKK1 localization in vivo and in vitro, by using immunolabeling, quantitative real-time PCR and Western blot in the myogenic lineage. Histologic investigations in mice and humans revealed that ANKK1 is expressed in precursors of embryonic and adult muscles. In mice embryos, ANKK1 was found in migrating myotubes where it shows a polarized cytoplasmic distribution, while proliferative myoblasts and satellite cells show different isoforms in their nuclei and cytoplasm. In vitro studies of ANKK1 protein isoforms along the myogenic progression showed the decline of nuclear ANKK1-kinase until its total exclusion in myotubes. In adult mice, ANKK1 was expressed exclusively in the Fast-Twitch muscles fibers subtype. The induction of glycolytic metabolism in C2C12 cells with high glucose concentration or treatment with berberine caused a significant increase in the ANKK1 mRNA. Similarly, C2C12 cells under hypoxic conditions caused the increase of nuclear ANKK1. These results altogether show a relationship between ANKK1 gene regulation and the metabolism of muscles during development and in adulthood. Finally, we found ANKK1 expression in regenerative fibers of muscles from dystrophic patients. Future studies in ANKK1 biology and the pathological response of muscles will reveal whether this protein is a novel muscle disease biomarker.

Datos de la publicación

ISSN/ISSNe:: 1932-6203, 1932-6203
Tipo:: Article
Páginas:: -
DOI:: 10.1371/journal.pone.0197254
Factor de Impacto:: 1,100 SCImago ℠
Cuartil:: Q1 SCImago ℠

Documentos

No hay documentos

Métricas

Filiaciones

Rubio-Solsona, E:: CIBERER, CIBERER Biobank, Valencia, Spain

Ctr Invest Principe Felipe, Valencia, Spain
Marti, S:: CIBERER, CIBERER Biobank, Valencia, Spain
Vilchez, JJ:: CIBERER, CIBERER Biobank, Valencia, Spain

Hosp Univ & Politecn La Fe, Dept Neurol, Valencia, Spain

Instituto de Investigación. Inst Invest Sanitaria La Fe IIS La Fe, Neuromuscular Res Unit, Valencia, Spain

Univ Valencia, Dept Med, Sch Med, Valencia, Spain
Palau, F:: CIBERER, CIBERER Biobank, Valencia, Spain

Ctr Invest Principe Felipe, Valencia, Spain

Hosp St Joan Deu, Dept Genet & Mol Med, Barcelona, Spain

Inst Recerca St Joan Deu, Lab Neurogenet & Mol Med, Barcelona, Spain

Univ Barcelona, Div Pediat, Sch Med, Barcelona, Spain
Hoenicka, J:: Ctr Invest Principe Felipe, Valencia, Spain

Inst Recerca St Joan Deu, Lab Neurogenet & Mol Med, Barcelona, Spain

CIBER Salud Mental CIBERSAM, Madrid, Spain