Neuroanatomical Characterisation of the Expression of the Lipodystrophy and Motor-Neuropathy Gene Bscl2 in Adult Mouse Brain

PLoS ONE

Volumn 7, Issue 9, 2012, Pages

  Garfield, Alastair S ^a   Chan, Wai S ^a   Dennis, Rowena J ^a   Ito, Daisuke ^b   Heisler, Lora K ^a   Rochford, Justin J ^a  

^a UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^b KEIO UNIVERSITY   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

BRAIN PROTEIN; CATECHOLAMINE; CELL PROTEIN; MESSENGER RNA; OXYTOCIN; SEIPIN; UNCLASSIFIED DRUG;

ADULT ANIMAL; ANIMAL EXPERIMENT; ANIMAL TISSUE; ARCUATE NUCLEUS; ARTICLE; BERARDINELLI SEIP CONGENITAL LIPODYSTROPHY TYPE 2 GENE; BRAIN REGION; BRAIN TISSUE; CONTROLLED STUDY; DORSOMEDIAL HYPOTHALAMIC NUCLEUS; ENERGY BALANCE; GENE; GENE EXPRESSION REGULATION; GENE LOCATION; GENETIC ANALYSIS; HYPOTHALAMIC PARAVENTRICULAR NUCLEUS; HYPOTHALAMUS VENTROMEDIAL NUCLEUS; IMMUNOHISTOCHEMISTRY; IN SITU HYBRIDIZATION; LIPODYSTROPHY; MALE; MOTOR NEUROPATHY; MOUSE; NEUROANATOMY; NEUROCHEMISTRY; NONHUMAN;

ANIMALS; BRAIN; ENDOPLASMIC RETICULUM; GENE EXPRESSION REGULATION; HETEROTRIMERIC GTP-BINDING PROTEINS; HOMEOSTASIS; HUMANS; HYPOTHALAMUS; IMMUNOHISTOCHEMISTRY; IN SITU HYBRIDIZATION; LIPODYSTROPHY; MALE; MICE; MICE, INBRED C57BL; MUTATION; NEUROANATOMY; NEURONS; PARAVENTRICULAR HYPOTHALAMIC NUCLEUS; RNA, MESSENGER;

EID: 84866721060     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0045790     Document Type: Article

References (40)

1. Cartwright BR, Goodman JM, (2012) Seipin: from human disease to molecular mechanism. J Lipid Res 53: 1042-1055.
2. Fei W, Du X, Yang H, (2011) Seipin, adipogenesis and lipid droplets. Trends Endocrinol Metab 22: 204-210.
3. Ito D, Suzuki N, (2009) Seipinopathy: a novel endoplasmic reticulum stress-associated disease. Brain 132: 8-15.
4. Rochford JJ, (2010) Molecular mechanisms controlling human adipose tissue development: insights from monogenic lipodystrophies. Expert Rev Mol Med 12: e24.
5. Magre J, Delepine M, Khallouf E, Gedde-Dahl T Jr, Van Maldergem L, et al. (2001) Identification of the gene altered in Berardinelli-Seip congenital lipodystrophy on chromosome 11q13. Nat Genet 28: 365-370.
6. Agarwal AK, Simha V, Oral EA, Moran SA, Gorden P, et al. (2003) Phenotypic and genetic heterogeneity in congenital generalized lipodystrophy. J Clin Endocrinol Metab 88: 4840-4847.
7. Simha V, Garg A, (2003) Phenotypic heterogeneity in body fat distribution in patients with congenital generalized lipodystrophy caused by mutations in the AGPAT2 or seipin genes. J Clin Endocrinol Metab 88: 5433-5437.
8. Van Maldergem L, Magre J, Khallouf TE, Gedde-Dahl T Jr, Delepine M, et al. (2002) Genotype-phenotype relationships in Berardinelli-Seip congenital lipodystrophy. J Med Genet 39: 722-733.
9. Boutet E, El Mourabit H, Prot M, Nemani M, Khallouf E, et al. (2009) Seipin deficiency alters fatty acid Delta9 desaturation and lipid droplet formation in Berardinelli-Seip congenital lipodystrophy. Biochimie 91: 796-803.
10. Chen W, Yechoor VK, Chang BH, Li MV, March KL, et al. (2009) The human lipodystrophy gene product Berardinelli-Seip congenital lipodystrophy 2/seipin plays a key role in adipocyte differentiation. Endocrinology 150: 4552-4561.
11. Fei W, Shui G, Gaeta B, Du X, Kuerschner L, et al. (2008) Fld1p, a functional homologue of human seipin, regulates the size of lipid droplets in yeast. J Cell Biol 180: 473-482.
12. Szymanski KM, Binns D, Bartz R, Grishin NV, Li WP, et al. (2007) The lipodystrophy protein seipin is found at endoplasmic reticulum lipid droplet junctions and is important for droplet morphology. Proc Natl Acad Sci U S A 104: 20890-20895.
13. Windpassinger C, Auer-Grumbach M, Irobi J, Patel H, Petek E, et al. (2004) Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome. Nat Genet 36: 271-276.
14. Ito D, Fujisawa T, Iida H, Suzuki N, (2008) Characterization of seipin/BSCL2, a protein associated with spastic paraplegia 17. Neurobiol Dis 31: 266-277.
15. Cui X, Wang Y, Tang Y, Liu Y, Zhao L, et al. (2011) Seipin ablation in mice results in severe generalized lipodystrophy. Hum Mol Genet 20: 3022-3030.
16. Yagi T, Ito D, Nihei Y, Ishihara T, Suzuki N, (2011) N88S seipin mutant transgenic mice develop features of seipinopathy/BSCL2-related motor neuron disease via endoplasmic reticulum stress. Hum Mol Genet 20: 3831-3840.
17. Tian Y, Bi J, Shui G, Liu Z, Xiang Y, et al. (2011) Tissue-autonomous function of Drosophila seipin in preventing ectopic lipid droplet formation. PLoS Genet 7: e1001364.
18. Wolinski H, Kolb D, Hermann S, Koning RI, Kohlwein SD, (2011) A role for seipin in lipid droplet dynamics and inheritance in yeast. J Cell Sci 124: 3894-3904.
19. Cowley MA, Smart JL, Rubinstein M, Cerdan MG, Diano S, et al. (2001) Leptin activates anorexigenic POMC neurons through a neural network in the arcuate nucleus. Nature 411: 480-484.
20. Ito D, Suzuki N, (2007) Molecular pathogenesis of seipin/BSCL2-related motor neuron diseases. Ann Neurol 61: 237-250.
21. Silver JR, (1966) Familial spastic paraplegia with amyotrophy of the hands. Ann Hum Genet 30: 69-75.
22. Ahima RS, (2006) Adipose tissue as an endocrine organ. Obesity (Silver Spring) 14Suppl 5: 242S-249S.
23. Sanchez-Lasheras C, Konner AC, Bruning JC, (2010) Integrative neurobiology of energy homeostasis-neurocircuits, signals and mediators. Front Neuroendocrinol 31: 4-15.
24. Gautron L, Elmquist JK, (2011) Sixteen years and counting: an update on leptin in energy balance. J Clin Invest 121: 2087-2093.
25. Bartness TJ, Shrestha YB, Vaughan CH, Schwartz GJ, Song CK, (2010) Sensory and sympathetic nervous system control of white adipose tissue lipolysis. Mol Cell Endocrinol 318: 34-43.
26. Wang L, Barachina MD, Martinez V, Wei JY, Tache Y, (2000) Synergistic interaction between CCK and leptin to regulate food intake. Regul Pept 92: 79-85.
27. Blevins JE, Schwartz MW, Baskin DG, (2004) Evidence that paraventricular nucleus oxytocin neurons link hypothalamic leptin action to caudal brain stem nuclei controlling meal size. Am J Physiol Regul Integr Comp Physiol 287: R87-96.
28. Potes CS, Turek VF, Cole RL, Vu C, Roland BL, et al. (2010) Noradrenergic neurons of the area postrema mediate amylin's hypophagic action. Am J Physiol Regul Integr Comp Physiol 299: R623-631.
29. Biag J, Huang Y, Gou L, Hintiryan H, Askarinam A, et al. (2011) Cyto- and chemoarchitecture of the hypothalamic paraventricular nucleus in the C57BL/6J male mouse: a study of immunostaining and multiple fluorescent tract tracing. J Comp Neurol 520: 6-33.
30. Simmons DM, Swanson LW, (2009) Comparison of the spatial distribution of seven types of neuroendocrine neurons in the rat paraventricular nucleus: toward a global 3D model. J Comp Neurol 516: 423-441.
31. Atasoy D, Betley JN, Su HH, Sternson SM, (2012) Deconstruction of a neural circuit for hunger. Nature.
32. Appleyard SM, Marks D, Kobayashi K, Okano H, Low MJ, et al. (2007) Visceral afferents directly activate catecholamine neurons in the solitary tract nucleus. J Neurosci 27: 13292-13302.
33. Cui RJ, Li X, Appleyard SM, (2011) Ghrelin inhibits visceral afferent activation of catecholamine neurons in the solitary tract nucleus. J Neurosci 31: 3484-3492.
34. Petrov T, Krukoff TL, Jhamandas JH, (1993) Branching projections of catecholaminergic brainstem neurons to the paraventricular hypothalamic nucleus and the central nucleus of the amygdala in the rat. Brain Res 609: 81-92.
35. Maejima Y, Sedbazar U, Suyama S, Kohno D, Onaka T, et al. (2009) Nesfatin-1-regulated oxytocinergic signaling in the paraventricular nucleus causes anorexia through a leptin-independent melanocortin pathway. Cell Metab 10: 355-365.
36. Garg A, (2000) Lipodystrophies. Am J Med 108: 143-152.
37. Payne VA, Grimsey N, Tuthill A, Virtue S, Gray SL, et al. (2008) The human lipodystrophy gene BSCL2/seipin may be essential for normal adipocyte differentiation. Diabetes 57: 2055-2060.
38. Agostini M, Schoenmakers E, Mitchell C, Szatmari I, Savage D, et al. (2006) Non-DNA binding, dominant-negative, human PPARgamma mutations cause lipodystrophic insulin resistance. Cell Metab 4: 303-311.
39. Sarruf DA, Yu F, Nguyen HT, Williams DL, Printz RL, et al. (2009) Expression of peroxisome proliferator-activated receptor-gamma in key neuronal subsets regulating glucose metabolism and energy homeostasis. Endocrinology 150: 707-712.
40. Lu M, Sarruf DA, Talukdar S, Sharma S, Li P, et al. (2011) Brain PPAR-gamma promotes obesity and is required for the insulin-sensitizing effect of thiazolidinediones. Nat Med 17: 618-622.