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PMID: 20577052 Published · ppublish English Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't

Autophagy is essential for mouse sense of balance.

The Journal of clinical investigation ·Vol. 120 ·No. 7 ·2010-07-00 ·Pages 2331-44

Mariño G, Fernández AF, Cabrera S, Lundberg YW, Cabanillas R, Rodríguez F, Salvador-Montoliu N, Vega JA, Germanà A, Fueyo A, Freije JM, López-Otín C

Abstract

Autophagy is an evolutionarily conserved process that is essential for cellular homeostasis and organismal viability in eukaryotes. However, the extent of its functions in higher-order processes of organismal physiology and behavior is still unknown. Here, we report that autophagy is essential for the maintenance of balance in mice and that its deficiency leads to severe balance disorders. We generated mice deficient in autophagin-1 protease (Atg4b) and showed that they had substantial systemic reduction of autophagic activity. Autophagy reduction occurred through defective proteolytic processing of the autophagosome component LC3 and its paralogs, which compromised the rate of autophagosome maturation. Despite their viability, Atg4b-null mice showed unusual patterns of behavior that are common features of inner ear pathologies. Consistent with this, Atg4b-null mice showed defects in the development of otoconia, organic calcium carbonate crystals essential for sense of balance (equilibrioception). Furthermore, these abnormalities were exacerbated in Atg5-/- mice, which completely lack the ability to perform autophagy, confirming that autophagic activity is necessary for otoconial biogenesis. Autophagy deficiency also led to impaired secretion and assembly of otoconial core proteins, thus hampering otoconial development. Taken together, these results describe an essential role for autophagy in inner ear development and equilibrioception and open new possibilities for understanding and treating human balance disorders, which are of growing relevance among the elderly population.

MeSH Terms
Animals Autophagy/physiology Eukaryota Lysosomes/metabolism Mice Mice, Knockout Mice, Transgenic Otolithic Membrane/metabolism Proteins/metabolism
Chemicals
Proteins
Authors & Affiliations
12 authors, click to expand affiliations / ORCID
Mariño Guillermo
Departamento de Bioquímica y Biología Molecular, Facultad de Medicina, Instituto Universitario de Oncología, Universidad de Oviedo, 33006 Oviedo, Spain.
Fernández Alvaro F
Cabrera Sandra
Lundberg Yunxia W
Cabanillas Rubén
Rodríguez Francisco
Salvador-Montoliu Natalia
Vega José A
Germanà Antonino
Fueyo Antonio
Freije José M P
López-Otín Carlos
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Article Info
Journal
The Journal of clinical investigation
Abbr.
J Clin Invest
ISSN
1558-8238
Published
2010-07-00
Epub
2010-00-23
Pages
2331-44
Language
English
Region
United States
NLM ID
7802877
PMCID
PMC2898610
Subset
IM
Grants
NIDCD NIH HHS · R01 DC008603 · United States
NIDCD NIH HHS · DC008603 · United States
Corrections
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