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Hiroko Yanagisawa, Tomohiro Ishii, Kentaro Endo, Emiko Kawakami, Kazuaki Nagao, Toshiyuki Miyashita, Keiko Akiyama, Kazuhiko Watabe, Masaaki Komatsu, Daisuke Yamamoto, Yoshikatsu Eto
Lysosomal storage disorders are characterized by progressive accumulation of undigested macromolecules within the cell due to lysosomal dysfunction. 573C10 is a Schwann cell line derived from a mouse model of Niemann-Pick type C disease-1, NPC (-/-). Under serum-starved conditions, NPC (-/-) cells manifested impaired autophagy accompanied by an increase in the amount of p62 and lysosome enlargement. Addition of L-leucine to serum-starved NPC (-/-) cells ameliorated the enlargement of lysosomes and the p62 accumulation...
November 21, 2017: Scientific Reports
Emelie Perland, Sonchita Bagchi, Axel Klaesson, Robert Fredriksson
Solute carriers (SLCs) are vital as they are responsible for a major part of the molecular transport over lipid bilayers. At present, there are 430 identified SLCs, of which 28 are called atypical SLCs of major facilitator superfamily (MFS) type. These are MFSD1, 2A, 2B, 3, 4A, 4B, 5, 6, 6 L, 7, 8, 9, 10, 11, 12, 13A, 14A and 14B; SV2A, SV2B and SV2C; SVOP and SVOPL; SPNS1, SPNS2 and SPNS3; and UNC93A and UNC93B1. We studied their fundamental properties, and we also included CLN3, an atypical SLC not yet belonging to any protein family (Pfam) clan, because its involvement in the same neuronal degenerative disorders as MFSD8...
September 2017: Open Biology
Tomoyuki Sasaki, Shanshan Lian, Alam Khan, Jesse R Llop, Andrew V Samuelson, Wenbiao Chen, Daniel J Klionsky, Shuji Kishi
Spns1 (Spinster homolog 1 [Drosophila]) in vertebrates, as well as Spin (Spinster) in Drosophila, is a hypothetical lysosomal H+ -carbohydrate transporter, which functions at a late stage of macroautophagy (hereafter autophagy). The Spin/Spns1 defect induces aberrant autolysosome formation that leads to developmental senescence in the embryonic stage and premature aging symptoms in adulthood. However, the molecular mechanism by which loss of Spin/Spns1 leads to the specific pathogenesis remains to be elucidated...
February 2017: Autophagy
Sarah Voisin, Markus Sällman Almén, Galina Y Zheleznyakova, Lina Lundberg, Sanaz Zarei, Sandra Castillo, Fia Ence Eriksson, Emil K Nilsson, Matthias Blüher, Yvonne Böttcher, Peter Kovacs, Janis Klovins, Mathias Rask-Andersen, Helgi B Schiöth
BACKGROUND: The mechanisms by which genetic variants, such as single nucleotide polymorphisms (SNPs), identified in genome-wide association studies act to influence body mass remain unknown for most of these SNPs, which continue to puzzle the scientific community. Recent evidence points to the epigenetic and chromatin states of the genome as having important roles. METHODS: We genotyped 355 healthy young individuals for 52 known obesity-associated SNPs and obtained DNA methylation levels in their blood using the Illumina 450 K BeadChip...
October 8, 2015: Genome Medicine
Tianxiao Huan, Chunyu Liu, Roby Joehanes, Xiaoling Zhang, Brian H Chen, Andrew D Johnson, Chen Yao, Paul Courchesne, Christopher J O'Donnell, Peter J Munson, Daniel Levy
Genome-wide expression quantitative trait locus (eQTL) mapping may reveal common genetic variants regulating gene expression. In addition to mapping eQTLs, we systematically evaluated the heritability of the whole blood transcriptome in 5,626 participants from the Framingham Heart Study. Of all gene expression measurements, about 40 % exhibit evidence of being heritable [hgeneExp(2) > 0, (p < 0.05)], the average heritability was estimated to be 0.13, and 10 % display hgeneExp(2) > 0.2. To identify the role of eQTLs in promoting phenotype differences and disease susceptibility, we investigated the proportion of cis/trans eQTLs in different heritability categories and discovered that genes with higher heritability are more likely to have cis eQTLs that explain large proportions of variance in the expression of the corresponding genes...
March 2015: Human Genetics
Tomoyuki Sasaki, Shanshan Lian, Jie Qi, Peter E Bayliss, Christopher E Carr, Jennifer L Johnson, Sujay Guha, Patrick Kobler, Sergio D Catz, Matthew Gill, Kailiang Jia, Daniel J Klionsky, Shuji Kishi
Spinster (Spin) in Drosophila or Spinster homolog 1 (Spns1) in vertebrates is a putative lysosomal H+-carbohydrate transporter, which functions at a late stage of autophagy. The Spin/Spns1 defect induces aberrant autolysosome formation that leads to embryonic senescence and accelerated aging symptoms, but little is known about the mechanisms leading to the pathogenesis in vivo. Beclin 1 and p53 are two pivotal tumor suppressors that are critically involved in the autophagic process and its regulation. Using zebrafish as a genetic model, we show that Beclin 1 suppression ameliorates Spns1 loss-mediated senescence as well as autophagic impairment, whereas unexpectedly p53 deficit exacerbates both of these characteristics...
June 2014: PLoS Genetics
Åke Västermark, Josefin A Jacobsson, Åsa Johansson, Robert Fredriksson, Ulf Gyllensten, Helgi B Schiöth
No abstract text is available yet for this article.
August 2012: Journal of Genetics
Hanbing An, Jennifer L Morrell, Jennifer L Jennings, Andrew J Link, Kathleen L Gould
Septins are GTP binding proteins important for cytokinesis in many eukaryotes. The Schizosaccaromyces pombe genome sequence predicts orthologues of four of five Saccharomyces cerevisiae septins involved in cytokinesis and these are named Spns1-4p. That spns1-4 are not essential genes permitted the application of a combined genetic and proteomics approach to determine their functional relationships. Our findings indicate that Spns1-4p are present throughout interphase as a diffusely localized approximately 8...
December 2004: Molecular Biology of the Cell
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