Sivachenko A, Gordon HB, Kimball SS, Gavin EJ, Bonkowsky JL, Letsou A. Neurodegeneration in a Drosophila model of Adrenoleukodystrophy: the roles of the bubblegum and double bubble acyl-CoA synthetases. Dis Model Mech. 2016 Feb 18. pii: dmm.022244. PMID: 26893370.
From the abstract: "Debilitating neurodegenerative conditions with metabolic origins affect millions of individuals worldwide. Still, for most of these neurometabolic disorders ... novel animal models are needed for elucidation of disease pathology and identification of potential therapeutic agents. To date, metabolic neurodegenerative disease has been modeled in animals with only limited success, in part because existing models constitute analyses of single mutants ... We show that the Drosophila bubblegum (bgm) and double bubble (dbb) genes have overlapping functions, and that the consequences of ... double knockout in the fly brain are profound ... providing the best paradigm to date for an animal model of Adrenoleukodystrophy (ALD), a fatal childhood neurodegenerative disease associated with the accumulation of very long chain fatty acids. ... in an extension of our model system to the study of human disease, we describe our identification of a leukodystrophy patient who harbors a rare mutation in a human homologue of Bgm and Dbb: the SLC27a6-encoded very-long-chain acyl-CoA synthetase."
Showing posts with label Neonatal adrenoleukodystrophy. Show all posts
Showing posts with label Neonatal adrenoleukodystrophy. Show all posts
Saturday, February 20, 2016
Tuesday, October 2, 2012
Inventory of fly peroxisomal proteins. Links to diseases. Recent report.
This recent paper catalogs fly peroxisomal proteins.
Faust JE, Verma A, Peng C, McNew JA. An Inventory of Peroxisomal Proteins and Pathways in Drosophila melanogaster. Traffic. 2012 Oct;13(10):1378-92. doi: 10.1111/j.1600-0854.2012.01393.x. PubMed PMID: 22758915; PubMed Central PMCID: PMC3443258.
Disruption of peroxisomal-related factors in humans can cause peroxisomal biogenesis disorders such as Zellweger syndrome. Additional relevant disease terms include peroxisomal acyl-CoA oxidase deficiency, rhizomelic chondrodysplasia punctata, Refsum disease, and neonatal adrenoleukodystrophy. You can read about peroxisomal biogenesis disorders at Gene Reviews (includes information about human disease-associated genes).
Evolutionary conservation? The answer appears to be yes. From the paper, "We have identified all of the major vertebrate peroxisomal pathways in Drosophila."
At least these three papers discuss fly models of peroxisomal biogenesis disorders.
Mast FD, Li J, Virk MK, Hughes SC, Simmonds AJ, Rachubinski RA. A Drosophila model for the Zellweger spectrum of peroxisome biogenesis disorders. Dis Model Mech. 2011 Sep-Oct;4(5):659-72. doi: 10.1242/dmm.007419. PubMed PMID: 21669930; PubMed Central PMCID: PMC3180231.
Nakayama M, Sato H, Okuda T, Fujisawa N, Kono N, Arai H, Suzuki E, Umeda M, Ishikawa HO, Matsuno K. Drosophila carrying pex3 or pex16 mutations are models of Zellweger syndrome that reflect its symptoms associated with the absence of peroxisomes. PLoS One. 2011;6(8):e22984. PubMed PMID: 21826223; PubMed Central PMCID: PMC3149631.
Chen H, Liu Z, Huang X. Drosophila models of peroxisomal biogenesis disorder: peroxins are required for spermatogenesis and very-long-chain fatty acid metabolism. Hum Mol Genet. 2010 Feb 1;19(3):494-505. PubMed PMID: 19933170.
Faust JE, Verma A, Peng C, McNew JA. An Inventory of Peroxisomal Proteins and Pathways in Drosophila melanogaster. Traffic. 2012 Oct;13(10):1378-92. doi: 10.1111/j.1600-0854.2012.01393.x. PubMed PMID: 22758915; PubMed Central PMCID: PMC3443258.
Disruption of peroxisomal-related factors in humans can cause peroxisomal biogenesis disorders such as Zellweger syndrome. Additional relevant disease terms include peroxisomal acyl-CoA oxidase deficiency, rhizomelic chondrodysplasia punctata, Refsum disease, and neonatal adrenoleukodystrophy. You can read about peroxisomal biogenesis disorders at Gene Reviews (includes information about human disease-associated genes).
Evolutionary conservation? The answer appears to be yes. From the paper, "We have identified all of the major vertebrate peroxisomal pathways in Drosophila."
At least these three papers discuss fly models of peroxisomal biogenesis disorders.
Mast FD, Li J, Virk MK, Hughes SC, Simmonds AJ, Rachubinski RA. A Drosophila model for the Zellweger spectrum of peroxisome biogenesis disorders. Dis Model Mech. 2011 Sep-Oct;4(5):659-72. doi: 10.1242/dmm.007419. PubMed PMID: 21669930; PubMed Central PMCID: PMC3180231.
Nakayama M, Sato H, Okuda T, Fujisawa N, Kono N, Arai H, Suzuki E, Umeda M, Ishikawa HO, Matsuno K. Drosophila carrying pex3 or pex16 mutations are models of Zellweger syndrome that reflect its symptoms associated with the absence of peroxisomes. PLoS One. 2011;6(8):e22984. PubMed PMID: 21826223; PubMed Central PMCID: PMC3149631.
Chen H, Liu Z, Huang X. Drosophila models of peroxisomal biogenesis disorder: peroxins are required for spermatogenesis and very-long-chain fatty acid metabolism. Hum Mol Genet. 2010 Feb 1;19(3):494-505. PubMed PMID: 19933170.
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