Central nervous system dysfunction in a mouse model of Fa2H deficiency

GLIA

Volumn 59, Issue 7, 2011, Pages 1009-1021

  Potter, Kathleen A ^a   Kern, Michael J ^a   Fullbright, George ^a   Bielawski, Jacek ^a   Scherer, Steven S ^b   Yum, Sabrina W ^b   Li, Jian J ^b   Cheng, Hua ^c   Han, Xianlin ^c,d   Venkata, Jagadish Kummetha ^a   Akbar Ali Khan, P ^a   Rohrer, Bärbel ^a   Hama, Hiroko ^a  

^a MEDICAL UNIVERSITY OF SOUTH CAROLINA   (United States)

^b UNIVERSITY OF PENNSYLVANIA   (United States)

^c WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^d BURNHAM INSTITUTE   (United States)

Author keywords

Fatty acid 2 hydroxylase; Leukodystrophy; Oligodendrocytes

Indexed keywords

FATTY ACID 2 HYDROXYLASE; GALACTOLIPID; MYELIN; OXYGENASE; UNCLASSIFIED DRUG;

AMNESIA; ANIMAL CELL; ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; CENTRAL NERVOUS SYSTEM DISEASE; CONTROLLED STUDY; DEMYELINATION; ENZYME DEFICIENCY; GENE DELETION; GERMLINE MICRONUCLEUS; LEARNING DISORDER; MAZE TEST; MOUSE; MOUSE MUTANT; NERVE DEGENERATION; NERVE FIBER; NERVE FUNCTION; NONHUMAN; OLIGODENDROGLIA; PERIPHERAL NERVE; PHENOTYPE; PRIORITY JOURNAL; SPATIAL ORIENTATION;

AMIDOHYDROLASES; ANIMALS; BRAIN; CENTRAL NERVOUS SYSTEM DISEASES; CHROMATOGRAPHY, THIN LAYER; DEMYELINATING DISEASES; DISEASE MODELS, ANIMAL; ELECTROMYOGRAPHY; LEARNING DISORDERS; LIPIDS; MAZE LEARNING; MEMORY DISORDERS; MICE; MICE, INBRED C57BL; MICE, KNOCKOUT; MICROSCOPY, ELECTRON, TRANSMISSION; MOTOR ACTIVITY; NEURAL CONDUCTION; OPTIC NERVE; ROTAROD PERFORMANCE TEST; SPINAL CORD; TANDEM MASS SPECTROMETRY;

EID: 79955860321     PISSN: 08941491     EISSN: 10981136     Source Type: Journal    
DOI: 10.1002/glia.21172     Document Type: Article

References (35)

1. Alderson NL, Hama H. 2009. Fatty acid 2-hydroxylase regulates cAMP-induced cell cycle exit in D6P2T Schwannoma cells. J Lipid Res 50: 1203-1208.
2. Alderson NL, Maldonado EN, Kern MJ, Bhat NR, Hama H. 2006. FA2H-dependent fatty acid 2-hydroxylation in postnatal mouse brain. J Lipid Res 47: 2772-2780.
3. Alderson NL, Rembiesa BM, Walla MD, Bielawska A, Bielawski J, Hama H. 2004. The human FA2H gene encodes a fatty acid 2-hydroxylase. J Biol Chem 279: 48562-48568.
4. Bielawski J, Pierce JS, Snider J, Rembiesa B, Szulc ZM, Bielawska A. 2009. Comprehensive quantitative analysis of bioactive sphingolipids by high-performance liquid chromatography-tandem mass spectrometry. Methods Mol Biol 579: 443-467.
5. Boger HA, Middaugh LD, Huang P, Zaman V, Smith AC, Hoffer BJ, Tomac AC, Granholm AC. 2006. A partial GDNF depletion leads to earlier age-related deterioration of motor function and tyrosine hydroxylase expression in the substantia nigra. Exp Neurol 202: 336-347.
6. Bowen DM, Radin NS. 1968. Hydroxy fatty acid metabolism in brain. Adv Lipid Res 6: 255-272.
7. Del Arco A, Segovia G, Garrido P, de Blas M, Mora F. 2007. Stress, prefrontal cortex and environmental enrichment: Studies on dopamine and acetylcholine release and working memory performance in rats. Behav Brain Res 176: 267-273.
8. Dick KJ, Al-Mjeni R, Baskir W, Koul R, Simpson MA, Patton MA, Raeburn S, Crosby AH. 2008. A novel locus for an autosomal recessive hereditary spastic paraplegia (SPG35) maps to 16q21-q23. Neurology 71: 248-252.
9. Dick KJ, Eckhardt M, Paisan-Ruiz C, Alshehhi AA, Proukakis C, Sibtain NA, Maier H, Sharifi R, Patton MA, Bashir W, et al. 2010. Mutation of FA2H underlies a complicated form of hereditary spastic paraplegia (SPG35). Hum Mutat 31: E1251-E1260.
10. Eckhardt M, Yaghootfam A, Fewou SN, Zoller I, Gieselmann V. 2005. A mammalian fatty acid hydroxylase responsible for the formation of alpha-hydroxylated galactosylceramide in myelin. Biochem J 388: 245-254.
11. Edvardson S, Hama H, Shaag A, Gomori JM, Berger I, Soffer D, Korman SH, Taustein I, Saada A, Elpeleg O. 2008. Mutations in the fatty acid 2-hydroxylase gene are associated with leukodystrophy with spastic paraparesis and dystonia. Am J Hum Genet 83: 643-648.
12. Fekete E. 1938. A comparative morphological study of the mammary gland in a high and a low tumor strain of mice. Am J Pathol 14: 557-578.5.
13. Fine EJ, Ionita CC, Lohr L. 2002. The history of the development of the cerebellar examination. Semin Neurol 22: 375-384.
14. Golan N, Adamsky K, Kartvelishvily E, Brockschnieder D, Mobius W, Spiegel I, Roth AD, Thomson CE, Rechavi G, Peles E. 2008. Identification of Tmem10/Opalin as an oligodendrocyte enriched gene using expression profiling combined with genetic cell ablation. Glia 56: 1176-1186.
15. Halberda JP, Middaugh LD, Gard BE, Jackson BP. 1997. DAD1- and DAD2-like agonist effects on motor activity of C57 mice: Differences compared to rats. Synapse 26: 81-92.
16. Han X, Gross RW. 2003. Global analyses of cellular lipidomes directly from crude extracts of biological samples by ESI mass spectrometry: A bridge to lipidomics. J Lipid Res 44: 1071-1079.
17. Han X, Gross RW. 2005. Shotgun lipidomics: electrospray ionization mass spectrometric analysis and quantitation of cellular lipidomes directly from crude extracts of biological samples. Mass Spectrom Rev 24: 367-412.
18. Howng SY, Avila RL, Emery B, Traka M, Lin W, Watkins T, Cook S, Bronson R, Davisson M, Barres BA, et al. 2010. ZFP191 is required by oligodendrocytes for CNS myelination. Genes Dev 24: 301-311.
19. Kruer MC, Paisán-Ruiz C, Boddaert N, Yoon MY, Hama H, Gregory A, Malandrini A, Woltjer RL, Munnich A, Polster BJ, et al. 2010. Defective FA2H leads to a novel form of neurodegeneration with brain iron accumulation (NBIA). Ann Neurol 68: 611-618.
20. Lampert PW. 1967. A comparative electron microscopic study of reactive, degenerating, regenerating, and dystrophic axons. J Neuropathol Exp Neurol 26: 345-368.
21. Lappe-Siefke C, Goebbels S, Gravel M, Nicksch E, Lee J, Braun PE, Griffiths IR, Nave KA. 2003. Disruption of Cnp1 uncouples oligodendroglial functions in axonal support and myelination. Nat Genet 33: 366-374.
22. Lille RD. 1965. Histopathologic Technique and Practical Histochemistry. New York, NY: McGraw-Hill.
23. Morris B, Morris R, Kenyon CJ. 1981. Effect of adrenalectomy on the transmission of IgG in young rats. Biol Neonate 39: 239-245.
24. Morris RG, Garrud P, Rawlins JN, O'Keefe J. 1982. Place navigation impaired in rats with hippocampal lesions. Nature 297: 681-683.
25. Norton WT, Cammer W. 1984. Isolation and characterization of myelin. In: Morell P, editor. Myelin. New York: Plenum. pp 147-195.
26. Pohl HBF, Porcheri C, Mueggler T, Bachmann LC, Martino G, Riethmacher D, Franklin RJM, Rudin M, Suter U. 2011. Genetically induced adult oligodendrocyte cell death is associated with poor myelin clearance, reduced remyelination, and axonal damage. J Neurosci 31: 1069-1080.
27. Rhee EK, England JD, Sumner AJ. 1990. A computer simulation of conduction block: Effects produced by actual block versus interphase cancellation. Ann Neurol 28: 146-156.
28. Scandroglio F, Loberto N, Valsecchi M, Chigorno V, Prinetti A, Sonnino S. 2009. Thin layer chromatography of gangliosides. Glycoconj J 26: 961-973.
29. Schaeren-Wiemers N, van der Bijl P, Schwab ME. 1995. The UDP-galactose:ceramide galactosyltransferase: expression pattern in oligodendrocytes and Schwann cells during myelination and substrate preference for hydroxyceramide. J Neurochem 65: 2267-2278.
30. Shy ME, Arroyo E, Sladky J, Menichella D, Jiang H, Xu W, Kamholz J, Scherer SS. 1997. Heterozygous P0 knockout mice develop a peripheral neuropathy that resembles chronic inflammatory demyelinating polyneuropathy (CIDP). J Neuropathol Exp Neurol 56: 811-821.
31. Stritt C, Stern S, Harting K, Manke T, Sinske D, Schwarz H, Vingron M, Nordheim A, Knoll B. 2009. Paracrine control of oligodendrocyte differentiation by SRF-directed neuronal gene expression. Nat Neurosci 12: 418-427.
32. Traka M, Arasi K, Avila RL, Podojil JR, Christakos A, Miller SD, Soliven B, Popko B. 2010. A genetic mouse model of adult-onset, pervasive central nervous system demyelination with robust remyelination. Brain 133: 3017-3029.
33. Trapp BD, Peterson J, Ransohoff RM, Rudick R, Mork S, Bo L. 1998. Axonal transection in the lesions of multiple sclerosis. N Engl J Med 338: 278-285.
34. Yang K, Cheng H, Gross RW, Han X. 2009. Automated lipid identification and quantification by multidimensional mass spectrometry-based shotgun lipidomics. Anal Chem 81: 4356-4368.
35. Zoller I, Meixner M, Hartmann D, Bussow H, Meyer R, Gieselmann V, Eckhardt M. 2008. Absence of 2-hydroxylated sphingolipids is compatible with normal neural development but causes late-onset axon and myelin sheath degeneration. J Neurosci 28: 9741-9754.