Cerebellar defects in Pdss2 conditional knockout mice during embryonic development and in adulthood

Neurobiology of Disease

Volumn 45, Issue 1, 2012, Pages 219-233

  Lu, Song ^a   Lu, Lin Yu ^a,b   Liu, Meng Fei ^a   Yuan, Qiu Ju ^a   Sham, Mai Har ^a   Guan, Xin Yuan ^a   Huang, Jian Dong ^a  

^a UNIVERSITY OF HONG KONG   (Hong Kong)

^b UNIVERSITY OF MICHIGAN MEDICAL SCHOOL   (United States)

Author keywords

Apoptosis; Ataxia; Cell migration; Cerebellum development; PDSS2; Purkinje cell; Ubiquinone deficiency

Indexed keywords

CRE RECOMBINASE; FIBROBLAST GROWTH FACTOR 8; PRENYL DIPHOSPHATE SYNTHASE; SYNTHETASE; TRANSCRIPTION FACTOR PAX2; UBIQUINONE; UNCLASSIFIED DRUG;

ADULTHOOD; ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; APOPTOSIS; ARTICLE; AUTOPHAGY; BRAIN DEVELOPMENT; BRANCHIAL ARCH; CELL LOSS; CELL MIGRATION; CELL VACUOLE; CEREBELLAR ATAXIA; CEREBELLUM HYPOPLASIA; CLEFT PALATE; CONTROLLED STUDY; DISEASE COURSE; DISORDERS OF MITOCHONDRIAL FUNCTIONS; ELECTRON MICROSCOPY; EMBRYO; EMBRYO DEVELOPMENT; GENE; GLIA CELL; KNOCKOUT MOUSE; METABOLIC DISORDER; MICROGNATHIA; MOUSE; MOUSE MUTANT; NERVE CELL; NERVE CELL NECROSIS; NEUROBLAST; NONHUMAN; PDSS2 GENE; POSTNATAL DEVELOPMENT; PRIORITY JOURNAL; PROTEIN DEFECT; PROTEIN EXPRESSION; PURKINJE CELL; UBIQUINONE DEFICIENCY;

EID: 81955161104     PISSN: 09699961     EISSN: 1095953X     Source Type: Journal    
DOI: 10.1016/j.nbd.2011.08.006     Document Type: Article

References (47)

1. Barisoni L., Madaio M.P., Eraso M., Gasser D.L., Nelson P.J. The kd/kd mouse is a model of collapsing glomerulopathy. J. Am. Soc. Nephrol. 2005, 16:2847-2851.
2. Boitier E., Degoul F., Desguerre I., Charpentier C., Francois D., Ponsot G., Diry M., Rustin P., Marsac C. A case of mitochondrial encephalomyopathy associated with a muscle coenzyme Q10 deficiency. J. Neurol. Sci. 1998, 156:41-46.
3. Carson F.L. Histotechnology : A Self Instructional Text 1990, ASCP Press, Chicago, Vol.
4. Chi C.L., Martinez S., Wurst W., Martin G.R. The isthmic organizer signal FGF8 is required for cell survival in the prospective midbrain and cerebellum. Development 2003, 130:2633-2644.
5. Crossley P.H., Martin G.R. The mouse Fgf8 gene encodes a family of polypeptides and is expressed in regions that direct outgrowth and patterning in the developing embryo. Development 1995, 121:439-451.
6. Di Giovanni S., Mirabella M., Spinazzola A., Crociani P., Silvestri G., Broccolini A., Tonali P., Di Mauro S., Servidei S. Coenzyme Q10 reverses pathological phenotype and reduces apoptosis in familial CoQ10 deficiency. Neurology 2001, 57:515-518.
7. Echevarria D., Belo J.A., Martinez S. Modulation of Fgf8 activity during vertebrate brain development. Brain Res. Brain Res. Rev. 2005, 49:150-157.
8. Farley F.W., Soriano P., Steffen L.S., Dymecki S.M. Widespread recombinase expression using FLPeR (flipper) mice. Genesis 2000, 28:106-110.
9. Favor J., Sandulache R., Neuhauser-Klaus A., Pretsch W., Chatterjee B., Senft E., Wurst W., Blanquet V., Grimes P., Sporle R., Schughart K. The mouse Pax2(1Neu) mutation is identical to a human PAX2 mutation in a family with renal-coloboma syndrome and results in developmental defects of the brain, ear, eye, and kidney. Proc. Natl. Acad. Sci. U. S. A. 1996, 93:13870-13875.
10. Fung J.M., Smith R., Brown M.A., Lau S.H., Xie D., Lau G.K., Guan X.Y. Identification and characterization of a novel melanoma tumor suppressor gene on human chromosome 6q21. Clin. Cancer Res. 2009, 15:797-803.
11. Gerfen C.R., Rogawski M.A., Sibley D.R. Short Protocols in Neuroscience: Systems and Behavioral Methods: A Compendium of Methods from Current Protocols in Neuroscience 2007, John Wiley, Vol.
12. Joyner A.L., Liu A., Millet S. Otx2, Gbx2 and Fgf8 interact to position and maintain a mid-hindbrain organizer. Curr. Opin. Cell Biol. 2000, 12:736-741.
13. Kimmel C.A., Trammell C. A rapid procedure for routine double staining of cartilage and bone in fetal and adult animals. Stain. Technol. 1981, 56:271-273.
14. Klingenberg M., Echtay K.S. Uncoupling proteins: the issues from a biochemist point of view. Biochim. Biophys. Acta 2001, 1504:128-143.
15. Lalani S.R., Vladutiu G.D., Plunkett K., Lotze T.E., Adesina A.M., Scaglia F. Isolated mitochondrial myopathy associated with muscle coenzyme Q10 deficiency. Arch. Neurol. 2005, 62:317-320.
16. Lamperti C., Naini A., Hirano M., De Vivo D.C., Bertini E., Servidei S., Valeriani M., Lynch D., Banwell B., Berg M., Dubrovsky T., Chiriboga C., Angelini C., Pegoraro E., DiMauro S. Cerebellar ataxia and coenzyme Q10 deficiency. Neurology 2003, 60:1206-1208.
17. Levavasseur F., Miyadera H., Sirois J., Tremblay M.L., Kita K., Shoubridge E., Hekimi S. Ubiquinone is necessary for mouse embryonic development but is not essential for mitochondrial respiration. J. Biol. Chem. 2001, 276:46160-46164.
18. Lewandoski M., Meyers E.N., Martin G.R. Analysis of Fgf8 gene function in vertebrate development. Cold Spring Harb. Symp. Quant. Biol. 1997, 62:159-168.
19. Lopez L.C., Schuelke M., Quinzii C.M., Kanki T., Rodenburg R.J., Naini A., Dimauro S., Hirano M. Leigh syndrome with nephropathy and CoQ10 deficiency due to decaprenyl diphosphate synthase subunit 2 (PDSS2) mutations. Am. J. Hum. Genet. 2006, 79:1125-1129.
20. Marszalek B., Wojcicki P., Kobus K., Trzeciak W.H. Clinical features, treatment and genetic background of Treacher Collins syndrome. J. Appl. Genet. 2002, 43:223-233.
21. Mauk M.D. Roles of cerebellar cortex and nuclei in motor learning: contradictions or clues?. Neuron 1997, 18:343-346.
22. McConnel F.M., Cerenko D., Mendelsohn M.S. Manofluorographic analysis of swallowing. Otolaryngol. Clin. North Am. 1988, 21:625-635.
23. McLeod M.J. Differential staining of cartilage and bone in whole mouse fetuses by alcian blue and alizarin red S. Teratology 1980, 22:299-301.
24. Meganathan R. Ubiquinone biosynthesis in microorganisms. FEMS Microbiol. Lett. 2001, 203:131-139.
25. Mollet J., Giurgea I., Schlemmer D., Dallner G., Chretien D., Delahodde A., Bacq D., de Lonlay P., Munnich A., Rotig A. Prenyldiphosphate synthase, subunit 1 (PDSS1) and OH-benzoate polyprenyltransferase (COQ2) mutations in ubiquinone deficiency and oxidative phosphorylation disorders. J. Clin. Invest. 2007, 117:765-772.
26. Musumeci O., Naini A., Slonim A.E., Skavin N., Hadjigeorgiou G.L., Krawiecki N., Weissman B.M., Tsao C.Y., Mendell J.R., Shanske S., De Vivo D.C., Hirano M., DiMauro S. Familial cerebellar ataxia with muscle coenzyme Q10 deficiency. Neurology 2001, 56:849-855.
27. Ogasahara S., Engel A.G., Frens D., Mack D. Muscle coenzyme Q deficiency in familial mitochondrial encephalomyopathy. Proc. Natl. Acad. Sci. U. S. A. 1989, 86:2379-2382.
28. Ohyama T., Groves A.K. Generation of Pax2-Cre mice by modification of a Pax2 bacterial artificial chromosome. Genesis 2004, 38:195-199.
29. Partanen J. FGF signalling pathways in development of the midbrain and anterior hindbrain. J. Neurochem. 2007, 101:1185-1193.
30. Peng M., Jarett L., Meade R., Madaio M.P., Hancock W.W., George A.L., Neilson E.G., Gasser D.L. Mutant prenyltransferase-like mitochondrial protein (PLMP) and mitochondrial abnormalities in kd/kd mice. Kidney Int. 2004, 66:20-28.
31. Peng M., Falk M.J., Haase V.H., King R., Polyak E., Selak M., Yudkoff M., Hancock W.W., Meade R., Saiki R., Lunceford A.L., Clarke C.F., Gasser D.L. Primary coenzyme Q deficiency in Pdss2 mutant mice causes isolated renal disease. PLoS Genet. 2008, 4:e1000061.
32. Posnick J.C., Ruiz R.L. Treacher Collins syndrome: current evaluation, treatment, and future directions. Cleft Palate Craniofac. J. 2000, 37:434.
33. Quinzii C.M., DiMauro S., Hirano M. Human coenzyme Q10 deficiency. Neurochem. Res. 2007, 32:723-727.
34. Quinzii C.M., Hirano M., DiMauro S. CoQ10 deficiency diseases in adults. Mitochondrion 2007, 7:S122-S126. (Suppl).
35. Rodriguez-Hernandez A., Cordero M.D., Salviati L., Artuch R., Pineda M., Briones P., Gomez Izquierdo L., Cotan D., Navas P., Sanchez-Alcazar J.A. Coenzyme Q deficiency triggers mitochondria degradation by mitophagy. Autophagy 2009, 5:19-32.
36. Rotig A., Appelkvist E.L., Geromel V., Chretien D., Kadhom N., Edery P., Lebideau M., Dallner G., Munnich A., Ernster L., Rustin P. Quinone-responsive multiple respiratory-chain dysfunction due to widespread coenzyme Q10 deficiency. Lancet 2000, 356:391-395.
37. Rotig A., Mollet J., Rio M., Munnich A. Infantile and pediatric quinone deficiency diseases. Mitochondrion 2007, 7:S112-S121. (Suppl).
38. Saiki R., Nagata A., Kainou T., Matsuda H., Kawamukai M. Characterization of solanesyl and decaprenyl diphosphate synthases in mice and humans. FEBS J. 2005, 272:5606-5622.
39. Saiki R., Lunceford A.L., Shi Y., Marbois B., King R., Pachuski J., Kawamukai M., Gasser D.L., Clarke C.F. Coenzyme Q10 supplementation rescues renal disease in Pdss2 kd/kd mice with mutations in prenyl diphosphate synthase subunit 2. Am. J. Physiol. Renal Physiol. 2008, 295:F1535-F1544.
40. Salviati L., Sacconi S., Murer L., Zacchello G., Franceschini L., Laverda A.M., Basso G., Quinzii C., Angelini C., Hirano M., Naini A.B., Navas P., DiMauro S., Montini G. Infantile encephalomyopathy and nephropathy with CoQ10 deficiency: a CoQ10-responsive condition. Neurology 2005, 65:606-608.
41. Soriano P. Generalized lacZ expression with the ROSA26 Cre reporter strain. Nat. Genet. 1999, 21:70-71.
42. Turunen M., Olsson J., Dallner G. Metabolism and function of coenzyme Q. Biochim. Biophys. Acta 2004, 1660:171-199.
43. Walter L., Nogueira V., Leverve X., Heitz M.P., Bernardi P., Fontaine E. Three classes of ubiquinone analogs regulate the mitochondrial permeability transition pore through a common site. J. Biol. Chem. 2000, 275:29521-29527.
44. Wilkinson D.G. In Situ Hybridisation: A Practical Approach 1992, IRL Press at Oxford University Press, Oxford, Vol.
45. Wu S., Ying G., Wu Q., Capecchi M.R. A protocol for constructing gene targeting vectors: generating knockout mice for the cadherin family and beyond. Nat. Protoc. 2008, 3:1056-1076.
46. Ye W., Bouchard M., Stone D., Liu X., Vella F., Lee J., Nakamura H., Ang S.L., Busslinger M., Rosenthal A. Distinct regulators control the expression of the mid-hindbrain organizer signal FGF8. Nat. Neurosci. 2001, 4:1175-1181.
47. Zhang X.M., Ng A.H., Tanner J.A., Wu W.T., Copeland N.G., Jenkins N.A., Huang J.D. Highly restricted expression of Cre recombinase in cerebellar Purkinje cells. Genesis 2004, 40:45-51.