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Search on : mevalonate and kinase and deficiency [Words]
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[PMID]: 29501512
[Au] Autor:Georgin-Lavialle S; Rodrigues F; Hentgen V; Fayand A; Quartier P; Bader-Meunier B; Bachmeyer C; Savey L; Louvrier C; Sarrabay G; Melki I; Belot A; Koné-Paut I; Grateau G
[Ad] Address:Service de médecine interne, université Paris 6, Pierre-et-Marie-Curie (UPMC), hôpital Tenon, Assistance publique-Hôpitaux de Paris (AP-HP), 20, rue de la Chine, 75020 Paris, France; Inserm UMRS_933, université Pierre-et-Marie-Curie (UPMC)-Paris 6, hôpital Trousseau, Assistance publique-Hôpitaux de
[Ti] Title:Panorama des maladies auto-inflammatoires. [Clinical overview of auto-inflammatory diseases].
[So] Source:Rev Med Interne;, 2018 Feb 28.
[Is] ISSN:1768-3122
[Cp] Country of publication:France
[La] Language:fre
[Ab] Abstract:Monogenic auto-inflammatory diseases are characterized by genetic abnormalities coding for proteins involved in innate immunity. They were initially described in mirror with auto-immune diseases because of the absence of circulating autoantibodies. Their main feature is the presence of peripheral blood inflammation in crisis without infection. The best-known auto-inflammatory diseases are mediated by interleukines that consisted in the 4 following diseases familial Mediterranean fever, cryopyrinopathies, TNFRSF1A-related intermittent fever, and mevalonate kinase deficiency. Since 10 years, many other diseases have been discovered, especially thanks to the progress in genetics. In this review, we propose the actual panorama of the main known auto-inflammatory diseases. Some of them are recurrent fevers with crisis and remission; some others evaluate more chronically; some are associated with immunodeficiency. From a physiopathological point of view, we can separate diseases mediated by interleukine-1 and diseases mediated by interferon. Then some polygenic inflammatory diseases will be shortly described: Still disease, Schnitzler syndrome, aseptic abscesses syndrome. The diagnosis of auto-inflammatory disease is largely based on anamnesis, the presence of peripheral inflammation during attacks and genetic analysis, which are more and more performant.
[Pt] Publication type:ENGLISH ABSTRACT; JOURNAL ARTICLE
[Em] Entry month:1803
[Cu] Class update date: 180304
[Lr] Last revision date:180304
[St] Status:Publisher

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[PMID]: 29451047
[Au] Autor:Tanaka T; Yoshioka K; Nishikomori R; Sakai H; Abe J; Yamashita Y; Hiramoto R; Morimoto A; Ishii E; Arakawa H; Kaneko U; Ohshima Y; Okamoto N; Ohara O; Hata I; Shigematsu Y; Kawai T; Yasumi T; Heike T
[Ad] Address:a Department of Pediatrics , Kyoto University Graduate School of Medicine , Kyoto , Japan.
[Ti] Title:National survey of Japanese patients with mevalonate kinase deficiency reveals distinctive genetic and clinical characteristics.
[So] Source:Mod Rheumatol;:1-7, 2018 Mar 02.
[Is] ISSN:1439-7609
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:OBJECTIVES: Mevalonate kinase deficiency (MKD), a rare autosomal recessive autoinflammatory syndrome, is caused by disease-causing variants of the mevalonate kinase (MVK) gene. A national survey was undertaken to investigate clinical and genetic features of MKD patients in Japan. METHODS: The survey identified ten patients with MKD. Clinical information and laboratory data were collected from medical records and by direct interviews with patients, their families, and their attending physicians. Genetic analysis and measurement of MVK activity and urinary excretion of mevalonic acid were performed. RESULTS: None of the 10 patients harbored MVK disease-causing variants that are common in European patients. However, overall symptoms were in line with previous European reports. Continuous fever was observed in half of the patients. Elevated transaminase was observed in four of the 10 patients, two of whom fulfilled the diagnostic criteria for hemophagocytic lymphohistiocytosis. About half of the patients responded to temporary administration of glucocorticoids and NSAIDs; the others required biologics such as anti-IL-1 drugs. CONCLUSION: This is the first national survey of MKD patients in a non-European country. Although clinical symptoms were similar to those reported in Europe, the incidence of continuous fever and elevated transaminase was higher, probably due to differences in disease-causing variants.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1802
[Cu] Class update date: 180302
[Lr] Last revision date:180302
[St] Status:Publisher
[do] DOI:10.1080/14397595.2018.1442639

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[PMID]: 29335349
[Au] Autor:Deshayes S; Georgin-Lavialle S; Hot A; Durel CA; Hachulla E; Rouanes N; Audia S; Le Gallou T; Quartier P; Urbanski G; Messer L; Klein S; de Boysson H; Bienvenu B; Grateau G; Aouba A
[Ad] Address:From the Department of Internal Medicine, Université Caen Normandie, Medical School, CHU de Caen, Caen; Department of Internal Medicine, Tenon Hospital, University Pierre and Marie Curie-Paris 6; Department of Pediatric Immunology, Hematology and Rheumatology, Hôpital Necker, Paris; Department of In
[Ti] Title:Efficacy of Continuous Interleukin 1 Blockade in Mevalonate Kinase Deficiency: A Multicenter Retrospective Study in 13 Adult Patients and Literature Review.
[So] Source:J Rheumatol;45(3):425-429, 2018 Mar.
[Is] ISSN:0315-162X
[Cp] Country of publication:Canada
[La] Language:eng
[Ab] Abstract:OBJECTIVE: To report efficacy and tolerance of interleukin 1 blockade in adult patients with mevalonate kinase deficiency (MKD). METHODS: We retrospectively collected data on 13 patients with MKD who had received anakinra (n = 10) and canakinumab (n = 7). RESULTS: Anakinra resulted in complete or partial remission in 3/10 and 5/10 patients, respectively, and no efficacy in 2/10, but a switch to canakinumab led to partial remission. Canakinumab resulted in complete or partial remission in 3/7 and 4/7 patients, respectively. CONCLUSION: These data support frequent partial responses, showing a better response with canakinumab. The genotype and therapeutic outcomes correlation should help in the personalization of treatment.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1801
[Cu] Class update date: 180302
[Lr] Last revision date:180302
[St] Status:In-Data-Review
[do] DOI:10.3899/jrheum.170684

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[PMID]: 29374778
[Au] Autor:Santos MMS; Elsztein C; De Souza RB; Paiva SSL; Silva JA; Crovella S; De Morais MA
[Ad] Address:Interdepartmental Research Group in Metabolic Engineering, Federal University of Pernambuco, Avenida Moraes Rego, No. 1235, Recife, PE, 50760-901, Brazil.
[Ti] Title:Respiratory deficiency in yeast mevalonate kinase deficient may explain MKD-associate metabolic disorder in humans.
[So] Source:Curr Genet;, 2018 Jan 27.
[Is] ISSN:1432-0983
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Mevalonate kinase deficiency (MKD) an orphan drug rare disease affecting humans with different clinical presentations, is still lacking information about its pathogenesis; no animal or cell model mimicking the genetic defect, mutations at MVK gene, and its consequences on the mevalonate pathway is available. Trying to clarify the effects of MVK gene impairment on the mevalonate pathway we used a yeast model, the erg12-d mutant strain Saccharomyces cerevisiae (orthologous of MKV) retaining only 10% of mevalonate kinase (MK) activity, to describe the effects of reduced MK activity on the mevalonate pathway. Since shortage of isoprenoids has been described in MKD, we checked this observation using a physiologic approach: while normally growing on glucose, erg12-d showed growth deficiency in glycerol, a respirable carbon source, that was not rescued by supplementation with non-sterol isoprenoids, such as farnesol, geraniol nor geranylgeraniol, produced by the mevalonate pathway. Erg12-d whole genome expression analysis revealed specific downregulation of RSF2 gene encoding general transcription factor for respiratory genes, explaining the absence of growth on glycerol. Moreover, we observed the upregulation of genes involved in sulphur amino acids biosynthesis that coincided with the increasing in the amount of proteins containing sulfhydryl groups; upregulation of ubiquinone biosynthesis genes was also detected. Our findings demonstrated that the shortage of isoprenoids is not the main mechanism involved in the respiratory deficit and mitochondrial malfunctioning of MK-defective cells, while the scarcity of ubiquinone plays an important role, as already observed in MKD patients.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1801
[Cu] Class update date: 180222
[Lr] Last revision date:180222
[St] Status:Publisher
[do] DOI:10.1007/s00294-018-0803-2

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[PMID]: 29217477
[Au] Autor:Zhang W; Yang X; Chen Y; Hu W; Liu L; Zhang X; Liu M; Sun L; Liu Y; Yu M; Li X; Li L; Zhu Y; Miao QR; Han J; Duan Y
[Ad] Address:College of Biomedical Engineering, Hefei University of Technology, Hefei, China; Research Institute of Obstetrics and Gynecology, Tianjin Central Hospital of Obstetrics and Gynecology, Tianjin, China.
[Ti] Title:Activation of hepatic Nogo-B receptor expression-A new anti-liver steatosis mechanism of statins.
[So] Source:Biochim Biophys Acta;1863(2):177-190, 2018 Feb.
[Is] ISSN:0006-3002
[Cp] Country of publication:Netherlands
[La] Language:eng
[Ab] Abstract:Deficiency of hepatic Nogo-B receptor (NgBR) expression activates liver X receptor α (LXRα) in an adenosine monophosphate-activated protein kinase α (AMPKα)-dependent manner, thereby inducing severe hepatic lipid accumulation and hypertriglyceridemia. Statins have been demonstrated non-cholesterol lowering effects including anti-nonalcoholic fatty liver disease (NAFLD). Herein, we investigated if the anti-NAFLD function of statins depends on activation of NgBR expression. In vivo, atorvastatin protected apoE deficient or NgBR floxed, but not hepatic NgBR deficient mice, against Western diet (WD)-increased triglyceride levels in liver and serum. In vitro, statins reduced lipid accumulation in nonsilencing small hairpin RNA-transfected (shNSi), but not in NgBR small hairpin RNA-transfected (shNgBRi) HepG2 cells. Inhibition of cellular lipid accumulation by atorvastatin is related to activation of AMPKα, and inactivation of LXRα and lipogenic genes. Statin also inhibited expression of oxysterol producing enzymes. Associated with changes of hepatic lipid levels by WD or atorvastatin, NgBR expression was inversely regulated. At cellular levels, statins increased NgBR mRNA and protein expression, and NgBR protein stability. In contrast to reduced cellular cholesterol levels by statin or ß-cyclodextrin, increased cellular cholesterol levels decreased NgBR expression suggesting cholesterol or its synthesis intermediates inhibit NgBR expression. Indeed, mevalonate, geranylgeraniol or geranylgeranyl pyrophosphate, but not farnesyl pyrophosphate or farnesol, blocked atorvastatin-induced NgBR expression. Furthermore, we determined that induction of hepatic NgBR expression by atorvastatin mainly depended on inactivation of extracellular signal-regulated kinases 1/2 (ERK1/2) and protein kinase B (Akt). Taken together, our study demonstrates that statins inhibit NAFLD mainly through activation of NgBR expression.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1712
[Cu] Class update date: 180210
[Lr] Last revision date:180210
[St] Status:In-Data-Review

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[PMID]: 29290516
[Au] Autor:Dunn K; Pasternak B; Kelsen JR; Sullivan KE; Dawany N; Wright BL
[Ad] Address:Phoenix Children's Hospital, Phoenix, Arizona.
[Ti] Title:Mevalonate kinase deficiency presenting as recurrent rectal abscesses and perianal fistulae.
[So] Source:Ann Allergy Asthma Immunol;120(2):214-215, 2018 Feb.
[Is] ISSN:1534-4436
[Cp] Country of publication:United States
[La] Language:eng
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1801
[Cu] Class update date: 180209
[Lr] Last revision date:180209
[St] Status:In-Data-Review

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[PMID]: 29328908
[Au] Autor:Bekkering S; Arts RJW; Novakovic B; Kourtzelis I; van der Heijden CDCC; Li Y; Popa CD; Ter Horst R; van Tuijl J; Netea-Maier RT; van de Veerdonk FL; Chavakis T; Joosten LAB; van der Meer JWM; Stunnenberg H; Riksen NP; Netea MG
[Ad] Address:Department of Internal Medicine, Radboud University Medical Center, 6525 GA Nijmegen, the Netherlands; Department of Experimental Vascular Medicine, Academic Medical Centre, Amsterdam, the Netherlands.
[Ti] Title:Metabolic Induction of Trained Immunity through the Mevalonate Pathway.
[So] Source:Cell;172(1-2):135-146.e9, 2018 Jan 11.
[Is] ISSN:1097-4172
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Innate immune cells can develop long-term memory after stimulation by microbial products during infections or vaccinations. Here, we report that metabolic signals can induce trained immunity. Pharmacological and genetic experiments reveal that activation of the cholesterol synthesis pathway, but not the synthesis of cholesterol itself, is essential for training of myeloid cells. Rather, the metabolite mevalonate is the mediator of training via activation of IGF1-R and mTOR and subsequent histone modifications in inflammatory pathways. Statins, which block mevalonate generation, prevent trained immunity induction. Furthermore, monocytes of patients with hyper immunoglobulin D syndrome (HIDS), who are mevalonate kinase deficient and accumulate mevalonate, have a constitutive trained immunity phenotype at both immunological and epigenetic levels, which could explain the attacks of sterile inflammation that these patients experience. Unraveling the role of mevalonate in trained immunity contributes to our understanding of the pathophysiology of HIDS and identifies novel therapeutic targets for clinical conditions with excessive activation of trained immunity.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1801
[Cu] Class update date: 180112
[Lr] Last revision date:180112
[St] Status:In-Data-Review

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[PMID]: 29234874
[Au] Autor:Mezzavilla M; Moura RR; Celsi F; Tricarico PM; Crovella S
[Ad] Address:Division of Experimental Genetics, Sidra Medical and Research Center, Doha, Qatar.
[Ti] Title:MMAB, a novel candidate gene to be screened in the molecular diagnosis of Mevalonate Kinase Deficiency.
[So] Source:Rheumatol Int;38(1):121-127, 2018 Jan.
[Is] ISSN:1437-160X
[Cp] Country of publication:Germany
[La] Language:eng
[Ab] Abstract:Mevalonate kinase deficiency (MKD) is an autosomal recessive inflammatory disease. Mutations in MVK gene are associated with MKD with modest genotype-phenotype correlation. In spite of recent guidelines indicating specific MVK mutations for the more severe form or the milder one, little is known about MVK variability within and between populations. The aim of this work is to provide supplementary information about MVK variability useful in the molecular diagnosis of MKD, as well as to unravel the presence of novel genes potentially involved as involved in the clinical heterogeneity of MKD phenotype. We used a population-based approach, coupled with Combined Annotation-Dependent Depletion (CADD) score, to analyze the level of genetic variability for common and putatively deleterious MVK variants. We also performed Exome screening with the Illumina Human Exome Bead Chip on 21 MKD patients to double-check our in silico findings. Haplotype block detection in different populations revealed the existence of two blocks in MVK; interestingly, the first haploblock comprises the promoter region shared with MMAB gene. Analyses of MMAB and MVK genetic variants in 21 MKD patients strengthen our observations showing a novel scenario in which the same mutations commonly associated with MKD are found coupled with different combination of MMAB rs7134594 SNP was already described as associated with HDL cholesterol level and present in the haploblock promoter region. The rs7134594 SNP is reported as an eQTL for MVK and MMAB. Hypothesizing the presence of genetic variants modulating the complex phenotypic spectrum of MKD, we suggest that future directions in screening for MKD pathogenic variants should focus both MMAB and MVK genes.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1712
[Cu] Class update date: 180110
[Lr] Last revision date:180110
[St] Status:In-Data-Review
[do] DOI:10.1007/s00296-017-3890-3

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[PMID]: 29097507
[Au] Autor:Camunas-Soler J; Lee H; Hudgins L; Hintz SR; Blumenfeld YJ; El-Sayed YY; Quake SR
[Ad] Address:Department of Bioengineering, Stanford University, Stanford, CA.
[Ti] Title:Noninvasive Prenatal Diagnosis of Single-Gene Disorders by Use of Droplet Digital PCR.
[So] Source:Clin Chem;, 2017 Nov 02.
[Is] ISSN:1530-8561
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:BACKGROUND: Prenatal diagnosis in pregnancies at risk of single-gene disorders is currently performed using invasive methods such as chorionic villus sampling and amniocentesis. This is in contrast with screening for common aneuploidies, for which noninvasive methods with a single maternal blood sample have become standard clinical practice. METHODS: We developed a protocol for noninvasive prenatal diagnosis of inherited single-gene disorders using droplet digital PCR from circulating cell-free DNA (cfDNA) in maternal plasma. First, the amount of cfDNA and fetal fraction is determined using a panel of TaqMan assays targeting high-variability single-nucleotide polymorphisms. Second, the ratio of healthy and diseased alleles in maternal plasma is quantified using TaqMan assays targeting the mutations carried by the parents. Two validation approaches of the mutation assay are presented. RESULTS: We collected blood samples from 9 pregnancies at risk for different single-gene disorders, including common conditions and rare metabolic disorders. We measured cases at risk of hemophilia, ornithine transcarbamylase deficiency, cystic fibrosis, ß-thalassemia, mevalonate kinase deficiency, acetylcholine receptor deficiency, and DFNB1 nonsyndromic hearing loss. We correctly differentiated affected and unaffected pregnancies (2 affected, 7 unaffected), confirmed by neonatal testing. We successfully measured an affected pregnancy as early as week 11 and with a fetal fraction as low as 3.7% (0.3). CONCLUSIONS: Our method detects single-nucleotide mutations of autosomal recessive diseases as early as the first trimester of pregnancy. This is of importance for metabolic disorders in which early diagnosis can affect management of the disease and reduce complications and anxiety related to invasive testing.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1711
[Cu] Class update date: 171103
[Lr] Last revision date:171103
[St] Status:Publisher

  10 / 317 MEDLINE  
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[PMID]: 29069827
[Au] Autor:Miao L; Yin RX; Huang F; Chen WX; Cao XL; Wu JZ
[Ad] Address:Department of Cardiology, Institute of Cardiovascular Diseases, The First Affiliated Hospital, Guangxi Medical University, Nanning 530021, China.
[Ti] Title:The effect of variants, their haplotypes and G×E interactions on serum lipid levels and the risk of coronary heart disease and ischemic stroke.
[So] Source:Oncotarget;8(42):72801-72817, 2017 Sep 22.
[Is] ISSN:1949-2553
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:AIM: This study aimed to detect the association of the mevalonate kinase (MVK) and methylmalonic aciduria (cobalamin deficiency) cblB type (MMAB) gene variants, their haplotypes, and gene-environment (G×E) interactions on serum lipid levels and the risk of coronary heart disease (CHD) and ischemic stroke (IS) in a Chinese Han population. METHODS: Genotyping of the rs3759387, rs7134594, rs877710 and rs9593 SNPs in 846 CHD and 869 IS patients and 847 healthy controls was performed by PCR-RFLP and Sanger sequencing. Logistic regression and factor regression were used to investigate the association of 4 SNPs and serum lipid levels and the risk of CHD and IS. RESULTS: The genotypic and allelic frequencies of the rs3759387 and rs7134594 SNPs differed between controls and patients ( < 0.0125-0.001). The rs3759387 SNP was associated with the risk of CHD and IS in different genetic models. The A-T-G-A and C-T-C-T haplotypes were associated with increased risk of CHD. The haplotype of A-T-G-A was associated with an increased risk of IS, whereas the C-T-G-A haplotype was associated with a decreased risk of IS. Interactions of C-T-C-T-smoking or C-T-C-T-age on the risk of CHD, and A-T-G-A-hypertension or A-T-G-A-age on the risk of IS were also observed. The subjects with the rs3759387AA genotype in controls had lower high-density lipoprotein cholesterol (HDL-C) levels than did the subjects with AC/CC genotypes. Several SNPs interacted with alcohol consumption and cigarette smoking to increase serum HDL-C and apolipoprotein A1 levels, but they interacted with body mass index ≥ 24 kg/m to decrease serum HDL-C and apolipoprotein A1 levels. CONCLUSION: Several variants, especially the rs3759387 SNP, 4 main haplotypes, and G×E interactions were associated with serum lipid levels and the risk of CHD and IS in a Chinese Han population.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1710
[Cu] Class update date: 171029
[Lr] Last revision date:171029
[St] Status:PubMed-not-MEDLINE
[do] DOI:10.18632/oncotarget.20349


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