Literature DB >> 17300749

Regulation by SREBP-2 defines a potential link between isoprenoid and adenosylcobalamin metabolism.

Charlotte Murphy1, Ann Marie Murray, Steve Meaney, Mats Gåfvels.   

Abstract

Mevalonate kinase (MVK) catalyses an early step in cholesterol biosynthesis converting mevalonate to phosphomevalonate. Cob(I)alamin adenosyltransferase (MMAB) converts cob(I)alamin to adenosylcobalamin, functionally required for mitochondrial methylmalonyl-CoA mutase activity and succinyl-CoA formation. These two synthenic genes are found in a head-to-head formation on chromosome 12 in man and chromosome 5 in mouse. The 330bp intergenic region showed several conserved NF-Y sites indicative of potential bidirectional regulatory SREBP synergism. Both MVK and MMAB appear to be regulated in a similar manner, to a large extent by SREBP-2, since their tissue expression pattern was similar and both genes were suppressed by an excess of cholesterol as well as SREBP-2 knockdown. Statin treatment in mice upregulated both Mvk and Mmab mRNA levels indicating that this treatment may be useful in inborn errors of cblB complementation associated with methylmalonic aciduria as well as hyper IgD and periodic fever syndrome (HIDS).

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Year:  2007        PMID: 17300749     DOI: 10.1016/j.bbrc.2007.01.155

Source DB:  PubMed          Journal:  Biochem Biophys Res Commun        ISSN: 0006-291X            Impact factor:   3.575


  14 in total

Review 1.  Genetic causes of high and low serum HDL-cholesterol.

Authors:  Daphna Weissglas-Volkov; Päivi Pajukanta
Journal:  J Lipid Res       Date:  2010-04-26       Impact factor: 5.922

2.  MMAB, a novel candidate gene to be screened in the molecular diagnosis of Mevalonate Kinase Deficiency.

Authors:  Massimo Mezzavilla; Ronald Rodrigues Moura; Fulvio Celsi; Paola Maura Tricarico; Sergio Crovella
Journal:  Rheumatol Int       Date:  2017-12-12       Impact factor: 2.631

3.  Allelic expression imbalance at high-density lipoprotein cholesterol locus MMAB-MVK.

Authors:  Marie P Fogarty; Rui Xiao; Ludmila Prokunina-Olsson; Laura J Scott; Karen L Mohlke
Journal:  Hum Mol Genet       Date:  2010-02-16       Impact factor: 6.150

4.  Functional and structural analysis of five mutations identified in methylmalonic aciduria cblB type.

Authors:  Ana Jorge-Finnigan; Cristina Aguado; Rocio Sánchez-Alcudia; David Abia; Eva Richard; Begoña Merinero; Alejandra Gámez; Ruma Banerjee; Lourdes R Desviat; Magdalena Ugarte; Belen Pérez
Journal:  Hum Mutat       Date:  2010-09       Impact factor: 4.878

5.  Novel variants at KCTD10, MVK, and MMAB genes interact with dietary carbohydrates to modulate HDL-cholesterol concentrations in the Genetics of Lipid Lowering Drugs and Diet Network Study.

Authors:  Mireia Junyent; Laurence D Parnell; Chao-Qiang Lai; Yu-Chi Lee; Caren E Smith; Donna K Arnett; Michael Y Tsai; Edmond K Kabagambe; Robert J Straka; Michael Province; Ping An; Ingrid Borecki; José M Ordovás
Journal:  Am J Clin Nutr       Date:  2009-07-15       Impact factor: 7.045

Review 6.  Mevalonate Pathway Blockade, Mitochondrial Dysfunction and Autophagy: A Possible Link.

Authors:  Paola Maura Tricarico; Sergio Crovella; Fulvio Celsi
Journal:  Int J Mol Sci       Date:  2015-07-15       Impact factor: 5.923

7.  The effect of MVK-MMAB variants, their haplotypes and G×E interactions on serum lipid levels and the risk of coronary heart disease and ischemic stroke.

Authors:  Liu Miao; Rui-Xing Yin; Feng Huang; Wu-Xian Chen; Xiao-Li Cao; Jin-Zhen Wu
Journal:  Oncotarget       Date:  2017-08-18

8.  Newly identified loci that influence lipid concentrations and risk of coronary artery disease.

Authors:  Cristen J Willer; Serena Sanna; Anne U Jackson; Angelo Scuteri; Lori L Bonnycastle; Robert Clarke; Simon C Heath; Nicholas J Timpson; Samer S Najjar; Heather M Stringham; James Strait; William L Duren; Andrea Maschio; Fabio Busonero; Antonella Mulas; Giuseppe Albai; Amy J Swift; Mario A Morken; Narisu Narisu; Derrick Bennett; Sarah Parish; Haiqing Shen; Pilar Galan; Pierre Meneton; Serge Hercberg; Diana Zelenika; Wei-Min Chen; Yun Li; Laura J Scott; Paul A Scheet; Jouko Sundvall; Richard M Watanabe; Ramaiah Nagaraja; Shah Ebrahim; Debbie A Lawlor; Yoav Ben-Shlomo; George Davey-Smith; Alan R Shuldiner; Rory Collins; Richard N Bergman; Manuela Uda; Jaakko Tuomilehto; Antonio Cao; Francis S Collins; Edward Lakatta; G Mark Lathrop; Michael Boehnke; David Schlessinger; Karen L Mohlke; Gonçalo R Abecasis
Journal:  Nat Genet       Date:  2008-01-13       Impact factor: 38.330

9.  Differences in X-chromosome transcriptional activity and cholesterol metabolism between placentae from swine breeds from Asian and Western origins.

Authors:  Steve R Bischoff; Shengdar Q Tsai; Nicholas E Hardison; Alison A Motsinger-Reif; Bradley A Freking; Dan J Nonneman; Gary A Rohrer; Jorge A Piedrahita
Journal:  PLoS One       Date:  2013-01-31       Impact factor: 3.240

10.  Association between the MVK and MMAB polymorphisms and serum lipid levels.

Authors:  Liu Miao; Rui-Xing Yin; Shang-Ling Pan; Shuo Yang; De-Zhai Yang; Wei-Xiong Lin
Journal:  Oncotarget       Date:  2017-07-31
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