Akt inactivation induces endoplasmic reticulum stress-independent autophagy in fibroblasts from patients with Pompe disease

Molecular Genetics and Metabolism

Volumn 107, Issue 3, 2012, Pages 490-495

  Nishiyama, Yurika ^a   Shimada, Yohta ^a   Yokoi, Takayuki ^a   Kobayashi, Hiroshi ^a   Higuchi, Takashi ^a   Eto, Yoshikatsu ^a   Ida, Hiroyuki ^a   Ohashi, Toya ^a  

^a JIKEI UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

Akt; Autophagy; Glycogen storage disease type II; Insulin; Pompe disease

Indexed keywords

INSULIN; MAMMALIAN TARGET OF RAPAMYCIN; PROTEIN KINASE B; RECOMBINANT GLUCAN 1,4 ALPHA GLUCOSIDASE; S6 KINASE;

ARTICLE; AUTOPHAGY; CELL LEVEL; CELL VACUOLE; CONTROLLED STUDY; ENDOPLASMIC RETICULUM STRESS; ENZYME INACTIVATION; ENZYME LOCALIZATION; FIBROBLAST; GENE MUTATION; GENETIC ASSOCIATION; GLYCOGEN STORAGE DISEASE TYPE 2; HUMAN; HUMAN CELL; LYSOSOME; PRIORITY JOURNAL; PROTEIN PHOSPHORYLATION; SIGNAL TRANSDUCTION;

ALPHA-GLUCOSIDASES; AUTOPHAGY; CELLS, CULTURED; ENDOPLASMIC RETICULUM; FIBROBLASTS; GENE EXPRESSION; GLUCOSE; GLYCOGEN; GLYCOGEN STORAGE DISEASE TYPE II; HUMANS; INFANT, NEWBORN; INSULIN; LYSOSOMES; MUSCLE, SKELETAL; PHAGOSOMES; PHOSPHORYLATION; PROTO-ONCOGENE PROTEINS C-AKT; RIBOSOMAL PROTEIN S6 KINASES, 70-KDA; SIGNAL TRANSDUCTION; TOR SERINE-THREONINE KINASES;

EID: 84867901530     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2012.09.011     Document Type: Article

References (21)

1. Hers H.G. alpha-Glucosidase deficiency in generalized glycogenstorage disease (Pompe's disease). Biochem. J. 1963, 86:11-16.
2. van den Hout H.M., Hop W., van Diggelen O.P., Smeitink J.A., Smit G.P., Poll-The B.T., Bakker H.D., Loonen M.C., de Klerk J.B., Reuser A.J., van der Ploeg A.T. The natural course of infantile Pompe's disease: 20 original cases compared with 133 cases from the literature. Pediatrics 2003, 112:332-340.
3. van der Ploeg A.T., Reuser A.J. Pompe's disease. Lancet 2008, 372:1342-1353.
4. Kishnani P.S., Corzo D., Nicolino M., Byrne B., Mandel H., Hwu W.L., Leslie N., Levine J., Spencer C., McDonald M., Li J., Dumontier J., Halberthal M., Chien Y.H., Hopkin R., Vijayaraghavan S., Gruskin D., Bartholomew D., van der Ploeg A., Clancy J.P., Parini R., Morin G., Beck M., De la Gastine G.S., Jokic M., Thurberg B., Richards S., Bali D., Davison M., Worden M.A., Chen Y.T., Wraith J.E. Recombinant human acid [alpha]-glucosidase: major clinical benefits in infantile-onset Pompe disease. Neurology 2007, 68:99-109.
5. Fukuda T., Ahearn M., Roberts A., Mattaliano R.J., Zaal K., Ralston E., Plotz P.H., Raben N. Autophagy and mistargeting of therapeutic enzyme in skeletal muscle in Pompe disease. Mol. Ther. J. Am. Soc. Gene Ther. 2006, 14:831-839.
6. Raben N., Takikita S., Pittis M.G., Bembi B., Marie S.K., Roberts A., Page L., Kishnani P.S., Schoser B.G., Chien Y.H., Ralston E., Nagaraju K., Plotz P.H. Deconstructing Pompe disease by analyzing single muscle fibers: to see a world in a grain of sand. Autophagy 2007, 3:546-552.
7. Ravikumar B., Futter M., Jahreiss L., Korolchuk V.I., Lichtenberg M., Luo S., Massey D.C., Menzies F.M., Narayanan U., Renna M., Jimenez-Sanchez M., Sarkar S., Underwood B., Winslow A., Rubinsztein D.C. Mammalian macroautophagy at a glance. J. Cell Sci. 2009, 122:1707-1711.
8. Shimada Y., Kobayashi H., Kawagoe S., Aoki K., Kaneshiro E., Shimizu H., Eto Y., Ida H., Ohashi T. Endoplasmic reticulum stress induces autophagy through activation of p38 MAPK in fibroblasts from Pompe disease patients carrying c.546G>T mutation. Mol. Genet. Metab. 2011, 104:566-573.
9. Cardone M., Porto C., Tarallo A., Vicinanza M., Rossi B., Polishchuk E., Donaudy F., Andria G., De Matteis M.A., Parenti G. Abnormal mannose-6-phosphate receptor trafficking impairs recombinant alpha-glucosidase uptake in Pompe disease fibroblasts. PathoGenetics 2008, 1:6.
10. Fukuda T., Ewan L., Bauer M., Mattaliano R.J., Zaal K., Ralston E., Plotz P.H., Raben N. Dysfunction of endocytic and autophagic pathways in a lysosomal storage disease. Ann. Neurol. 2006, 59:700-708.
11. Shimada Y., Nishida H., Nishiyama Y., Kobayashi H., Higuchi T., Eto Y., Ida H., Ohashi T. Proteasome inhibitors improve the function of mutant lysosomal alpha-glucosidase in fibroblasts from Pompe disease patient carrying c.546G>T mutation. Biochem. Biophys. Res. Commun. 2011, 415:274-278.
12. Fayard E., Tintignac L.A., Baudry A., Hemmings B.A. Protein kinase B/Akt at a glance. J. Cell Sci. 2005, 118:5675-5678.
13. Yang Z., Klionsky D.J. Mammalian autophagy: core molecular machinery and signaling regulation. Curr. Opin. Cell Biol. 2010, 22:124-131.
14. Zoncu R., Efeyan A., Sabatini D.M. mTOR: from growth signal integration to cancer, diabetes and ageing. Nat. Rev. Mol. Cell Biol. 2011, 12:21-35.
15. Xin X., Khan Z.A., Chen S., Chakrabarti S. Glucose-induced Akt1 activation mediates fibronectin synthesis in endothelial cells. Diabetologia 2005, 48:2428-2436.
16. Venkatachalam K., Mummidi S., Cortez D.M., Prabhu S.D., Valente A.J., Chandrasekar B. Resveratrol inhibits high glucose-induced PI3K/Akt/ERK-dependent interleukin-17 expression in primary mouse cardiac fibroblasts. Am. J. Physiol. Heart Circ. Physiol. 2008, 294:H2078-H2087.
17. Raben N., Schreiner C., Baum R., Takikita S., Xu S., Xie T., Myerowitz R., Komatsu M., Van der Meulen J.H., Nagaraju K., Ralston E., Plotz P.H. Suppression of autophagy permits successful enzyme replacement therapy in a lysosomal storage disorder-murine Pompe disease. Autophagy 2010, 6:1078-1089.
18. Katome T., Obata T., Matsushima R., Masuyama N., Cantley L.C., Gotoh Y., Kishi K., Shiota H., Ebina Y. Use of RNA interference-mediated gene silencing and adenoviral overexpression to elucidate the roles of AKT/protein kinase B isoforms in insulin actions. J. Biol. Chem. 2003, 278:28312-28323.
19. Lum J.J., DeBerardinis R.J., Thompson C.B. Autophagy in metazoans: cell survival in the land of plenty. Nat. Rev. Mol. Cell Biol. 2005, 6:439-448.
20. Ellington A.A., Berhow M.A., Singletary K.W. Inhibition of Akt signaling and enhanced ERK1/2 activity are involved in induction of macroautophagy by triterpenoid B-group soyasaponins in colon cancer cells. Carcinogenesis 2006, 27:298-306.
21. Mammucari C., Milan G., Romanello V., Masiero E., Rudolf R., Del Piccolo P., Burden S.J., Di Lisi R., Sandri C., Zhao J., Goldberg A.L., Schiaffino S., Sandri M. FoxO3 controls autophagy in skeletal muscle in vivo. Cell Metab. 2007, 6:458-471.