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https://www.readbyqxmd.com/read/27897980/protective-effects-of-%C3%AE-tocopherol-%C3%AE-tocopherol-and-oleic-acid-three-compounds-of-olive-oils-and-no-effect-of-trolox-on-7-ketocholesterol-induced-mitochondrial-and-peroxisomal-dysfunction-in-microglial-bv-2-cells
#1
Meryam Debbabi, Thomas Nury, Amira Zarrouk, Nadia Mekahli, Maryem Bezine, Randa Sghaier, Stéphane Grégoire, Lucy Martine, Philippe Durand, Emmanuelle Camus, Anne Vejux, Aymen Jabrane, Lionel Bretillon, Michel Prost, Thibault Moreau, Sofien Ben Ammou, Mohamed Hammami, Gérard Lizard
Lipid peroxidation products, such as 7-ketocholesterol (7KC), may be increased in the body fluids and tissues of patients with neurodegenerative diseases and trigger microglial dysfunction involved in neurodegeneration. It is therefore important to identify synthetic and natural molecules able to impair the toxic effects of 7KC. We determined the impact of 7KC on murine microglial BV-2 cells, especially its ability to trigger mitochondrial and peroxisomal dysfunction, and evaluated the protective effects of α- and γ-tocopherol, Trolox, and oleic acid (OA)...
November 25, 2016: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/27824156/genomic-and-transcriptomic-profiling-of-resistant-cem-adr-5000-and-sensitive-ccrf-cem-leukaemia-cells-for-unravelling-the-full-complexity-of-multi-factorial-multidrug-resistance
#2
Onat Kadioglu, Jingming Cao, Nadezda Kosyakova, Kristin Mrasek, Thomas Liehr, Thomas Efferth
We systematically characterised multifactorial multidrug resistance (MDR) in CEM/ADR5000 cells, a doxorubicin-resistant sub-line derived from drug-sensitive, parental CCRF-CEM cells developed in vitro. RNA sequencing and network analyses (Ingenuity Pathway Analysis) were performed. Chromosomal aberrations were identified by array-comparative genomic hybridisation (aCGH) and multicolour fluorescence in situ hybridisation (mFISH). Fifteen ATP-binding cassette transporters and numerous new genes were overexpressed in CEM/ADR5000 cells...
November 8, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27779191/25-hydroxycholesterol-contributes-to-cerebral-inflammation-of-x-linked-adrenoleukodystrophy-through-activation-of-the-nlrp3-inflammasome
#3
Jiho Jang, Sangjun Park, Hye Jin Hur, Hyun-Ju Cho, Inhwa Hwang, Yun Pyo Kang, Isak Im, Hyunji Lee, Eunju Lee, Wonsuk Yang, Hoon-Chul Kang, Sung Won Kwon, Je-Wook Yu, Dong-Wook Kim
X-linked adrenoleukodystrophy (X-ALD), caused by an ABCD1 mutation, is a progressive neurodegenerative disorder associated with the accumulation of very long-chain fatty acids (VLCFA). Cerebral inflammatory demyelination is the major feature of childhood cerebral ALD (CCALD), the most severe form of ALD, but its underlying mechanism remains poorly understood. Here, we identify the aberrant production of cholesterol 25-hydroxylase (CH25H) and 25-hydroxycholesterol (25-HC) in the cellular context of CCALD based on the analysis of ALD patient-derived induced pluripotent stem cells and ex vivo fibroblasts...
October 25, 2016: Nature Communications
https://www.readbyqxmd.com/read/27766264/abc-transporter-subfamily-d-distinct-differences-in-behavior-between-abcd1-3-and-abcd4-in-subcellular-localization-function-and-human-disease
#4
Kosuke Kawaguchi, Masashi Morita
ATP-binding cassette (ABC) transporters are one of the largest families of membrane-bound proteins and transport a wide variety of substrates across both extra- and intracellular membranes. They play a critical role in maintaining cellular homeostasis. To date, four ABC transporters belonging to subfamily D have been identified. ABCD1-3 and ABCD4 are localized to peroxisomes and lysosomes, respectively. ABCD1 and ABCD2 are involved in the transport of long and very long chain fatty acids (VLCFA) or their CoA-derivatives into peroxisomes with different substrate specificities, while ABCD3 is involved in the transport of branched chain acyl-CoA into peroxisomes...
2016: BioMed Research International
https://www.readbyqxmd.com/read/27489563/an-abcd1-mutation-c-253dupc-caused-diverse-phenotypes-of-adrenoleukodystrophy-in-an-iranian-consanguineous-pedigree
#5
Masoud Mehrpour, Faeze Gohari, Majid Zaki Dizaji, Ali Ahani, May Christine V Malicdan, Babak Behnam
OBJECTIVES: Current study was the first to report a consanguineous Iranian pedigree with ABCD1 mutation. METHODS: Targeted molecular analysis was initially performed in three affected individuals in one family suspected to have X-ALD due to chronic progressive spasticity. Upon confirmation of genetic diagnosis, further neurologic and genetic evaluation of all family members was done. RESULTS: A mutation in ABCD1 was identified in 35 affected individuals (out 96 pedigree members)...
June 2016: Journal of Molecular and Genetic Medicine: An International Journal of Biomedical Research
https://www.readbyqxmd.com/read/27425035/cyp4f2-affects-phenotypic-outcome-in-adrenoleukodystrophy-by-modulating-the-clearance-of-very-long-chain-fatty-acids
#6
Catherine E van Engen, Rob Ofman, Inge M E Dijkstra, Tessa Jacobs van Goethem, Eveline Verheij, Jennifer Varin, Michel Vidaud, Ronald J A Wanders, Patrick Aubourg, Stephan Kemp, Mathieu Barbier
X-linked adrenoleukodystrophy (ALD) is a severe neurodegenerative disorder caused by the accumulation of very long-chain fatty acids (VLCFA) due to mutations in the ABCD1 gene. The phenotypic spectrum ranges from a fatal cerebral demyelinating disease in childhood (cerebral ALD) to a progressive myelopathy without cerebral involvement in adulthood (adrenomyeloneuropathy). Because ABCD1 mutations have no predictive value with respect to clinical outcome a role for modifier genes was postulated. We report that the CYP4F2 polymorphism rs2108622 increases the risk of developing cerebral ALD in Caucasian patients...
October 2016: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/27312864/adrenoleukodystrophy-neuroendocrine-pathogenesis-and-redefinition-of-natural-history
#7
REVIEW
Stephan Kemp, Irene C Huffnagel, Gabor E Linthorst, Ronald J Wanders, Marc Engelen
X-Linked adrenoleukodystrophy (ALD) is a peroxisomal metabolic disorder with a highly complex clinical presentation. ALD is caused by mutations in the ABCD1 gene, which leads to the accumulation of very long-chain fatty acids in plasma and tissues. Virtually all men with ALD develop adrenal insufficiency and myelopathy. Approximately 60% of men develop progressive cerebral white matter lesions (known as cerebral ALD). However, one cannot identify these individuals until the early changes are seen using brain imaging...
October 2016: Nature Reviews. Endocrinology
https://www.readbyqxmd.com/read/27248780/a-de-novo-large-deletion-of-2-8-kb-produced-in-the-abcd1-gene-causing-adrenoleukodystrophy-disease
#8
Fakhri Kallabi, Ghada Ben Salah, Amel Ben Chehida, Mouna Tabebi, Rahma Felhi, Hadhami Ben Turkia, Neji Tebib, Leila Keskes, Hassen Kamoun
X-linked adrenoleukodystrophy (X-ALD) is a neurodegenerative disorder caused by mutations in the ABCD1 gene, which encodes an ATP-binding cassette transporter protein, ALDP. The disease is characterized by increased concentrations of very long chain fatty acids (VLCFAs) in plasma, adrenal, testicular, and nerve tissues. For this study, our objective was to conduct clinical, molecular, and genetic studies of a Tunisian patient with X-ALD. The diagnosis was based on clinical indications, biochemical analyses, typical brain-scan patterns, and molecular biology; the molecular analyses were based on PCR, long-range PCR, and sequencing...
June 2016: Biochemistry and Cell Biology, Biochimie et Biologie Cellulaire
https://www.readbyqxmd.com/read/27241966/endocrine-dysfunction-in-x-linked-adrenoleukodystrophy
#9
REVIEW
Elizabeth Burtman, Molly O Regelmann
X-linked adrenoleukodystrophy (X-ALD) is caused by mutations in the ABCD1 gene and leads to an elevation of very-long-chain fatty acids (VLCFA). The accumulation of the VLCFA and the associated oxidative stress can present with a spectrum of significant neurologic disease, adrenal insufficiency, and testicular dysfunction in males with ABCD1 gene mutations. Much of the published literature for X-ALD has focused on the associated devastating progressive neurologic conditions. The purpose of this review is to summarize the concerns for endocrine dysfunction associated with X-ALD and provide guidance for monitoring and management of adrenal insufficiency...
June 2016: Endocrinology and Metabolism Clinics of North America
https://www.readbyqxmd.com/read/27124591/c26-0-carnitine-is-a-new-biomarker-for-x-linked-adrenoleukodystrophy-in-mice-and-man
#10
Malu-Clair van de Beek, Inge M E Dijkstra, Henk van Lenthe, Rob Ofman, Dalia Goldhaber-Pasillas, Nicolas Schauer, Martin Schackmann, Joo-Yeon Engelen-Lee, Frédéric M Vaz, Wim Kulik, Ronald J A Wanders, Marc Engelen, Stephan Kemp
X-linked adrenoleukodystrophy (ALD), a progressive neurodegenerative disease, is caused by mutations in ABCD1 and characterized by very-long-chain fatty acids (VLCFA) accumulation. Virtually all males develop progressive myelopathy (AMN). A subset of patients, however, develops a fatal cerebral demyelinating disease (cerebral ALD). Hematopoietic stem cell transplantation is curative for cerebral ALD provided the procedure is performed in an early stage of the disease. Unfortunately, this narrow therapeutic window is often missed...
2016: PloS One
https://www.readbyqxmd.com/read/27114847/brain-lipotoxicity-of-phytanic-acid-and-very-long-chain-fatty-acids-harmful-cellular-mitochondrial-activities-in-refsum-disease-and-x-linked-adrenoleukodystrophy
#11
REVIEW
Peter Schönfeld, Georg Reiser
It is increasingly understood that in the aging brain, especially in the case of patients suffering from neurodegenerative diseases, some fatty acids at pathologically high concentrations exert detrimental activities. To study such activities, we here analyze genetic diseases, which are due to compromised metabolism of specific fatty acids, either the branched-chain phytanic acid or very long-chain fatty acids (VLCFAs). Micromolar concentrations of phytanic acid or of VLCFAs disturb the integrity of neural cells by impairing Ca(2+) homeostasis, enhancing oxidative stress or de-energizing mitochondria...
March 2016: Aging and Disease
https://www.readbyqxmd.com/read/27084228/genetic-background-of-the-hereditary-spastic-paraplegia-phenotypes-in-hungary-an-analysis-of-58-probands
#12
Peter Balicza, Zoltan Grosz, Michael A Gonzalez, Renata Bencsik, Klara Pentelenyi, Aniko Gal, Edina Varga, Peter Klivenyi, Julia Koller, Stephan Züchner, Judit Maria Molnar
BACKGROUND: Hereditary spastic paraplegias (HSPs) are a clinically and genetically heterogeneous group of neurodegenerative diseases with progressive lower limb spasticity and weakness. The aim of this study is to determine the frequency of different SPG mutations in Hungarian patients, and to provide further genotype-phenotype correlations for the known HSP causing genes. METHODS: We carried out genetic testing for 58 probands with clinical characteristics of HSP...
May 15, 2016: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/27067449/pathogenicity-of-novel-abcd1-variants-the-need-for-biochemical-testing-in-the-era-of-advanced-genetics
#13
Martin J A Schackmann, Rob Ofman, Björn M van Geel, Inge M E Dijkstra, Klaartje van Engelen, Ronald J A Wanders, Marc Engelen, Stephan Kemp
X-linked adrenoleukodystrophy (ALD), a progressive neurodegenerative disease, is caused by mutations in ABCD1 and characterized by very-long-chain fatty acids (VLCFA) accumulation. In male patients, an increased plasma VLCFA levels in combination with a pathogenic mutation in ABCD1 confirms the diagnosis. Recent studies have shown that many women with ALD also develop myelopathy. Correct diagnosis is important for management including genetic counseling. Diagnosis in women can only be confirmed when VLCFA levels are elevated or when a known pathogenic ABCD1 mutation is identified...
June 2016: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/27041118/7-ketocholesterol-is-increased-in-the-plasma-of-x-ald-patients-and-induces-peroxisomal-modifications-in-microglial-cells-potential-roles-of-7-ketocholesterol-in-the-pathophysiology-of-x-ald
#14
Thomas Nury, Amira Zarrouk, Kévin Ragot, Meryam Debbabi, Jean-Marc Riedinger, Anne Vejux, Thibault Moreau, Patrick Aubourg, Gérard Lizard
X-linked adrenoleukodystrophy (X-ALD) is a genetic disorder induced by a mutation in the ABCD1 gene, which causes the accumulation of very long-chain fatty acids in tissue and plasma. Oxidative stress may be a hallmark of X-ALD. In the plasma of X-ALD patients with different forms of the disease, characterized by high levels of C24:0 and C26:0, we observed the presence of oxidative stress revealed by decreased levels of GSH, α-tocopherol, and docosahexaenoic acid (DHA). We showed that oxidative stress caused the oxidation of cholesterol and linoleic acid, leading to the formation of cholesterol oxide derivatives oxidized at C7 (7-ketocholesterol (7KC), 7β-hydroxycholesterol (7β-OHC), and 7α-hydroxycholesrol (7α-OHC)) and of 9- and 13-hydroxyoctadecadienoic acids (9-HODE, 13-HODE), respectively...
March 31, 2016: Journal of Steroid Biochemistry and Molecular Biology
https://www.readbyqxmd.com/read/26849413/metformin-induced-mitochondrial-function-and-abcd2-up-regulation-in-x-linked-adrenoleukodystrophy-involves-amp-activated-protein-kinase
#15
Jaspreet Singh, Brittany Olle, Hamid Suhail, Michelle M Felicella, Shailendra Giri
X-linked adrenoleukodystrophy (X-ALD) is a progressive neurometabolic disease caused by mutations/deletions in the Abcd1 gene. Similar mutations/deletions in the Abcd1 gene often result in diagonally opposing phenotypes of mild adrenomyeloneuropathy and severe neuroinflammatory cerebral adrenoleukodystrophy (ALD), which suggests involvement of downstream modifier genes. We recently documented the first evidence of loss of AMP-activated protein kinase α1 (AMPKα1) in ALD patient-derived cells. Here, we report the novel loss of AMPKα1 in postmortem brain white matter of patients with ALD phenotype...
July 2016: Journal of Neurochemistry
https://www.readbyqxmd.com/read/26843114/microrna-profiling-identifies-mir-196a-as-differentially-expressed-in-childhood-adrenoleukodystrophy-and-adult-adrenomyeloneuropathy
#16
Navjot Shah, Inderjit Singh
X-linked adrenoleukodystrophy (X-ALD) is a peroxisomal disorder caused by mutations in the ABCD1 gene, leading to a defect in the peroxisomal adrenoleukodystrophy protein (ALDP), which inhibits the β-oxidation of very long chain fatty acids (VLCFAs). It is a complex disease where the same mutation in the peroxisomal ABCD1 can lead to clinically diverse phenotypes ranging from the fatal disorder of cerebral ALD (cALD) to mild adult disorder of adrenomyeloneuropathy (AMN). This suggests a role of epigenetic factors/modifier genes in disease progression of X-ALD which is not understood at present...
February 3, 2016: Molecular Neurobiology
https://www.readbyqxmd.com/read/26686776/phenotypic-variability-in-a-tunisian-family-with-x-linked-adrenoleukodystrophy-caused-by-the-p-gln316pro-novel-mutation
#17
Fakhri Kallabi, Emna Ellouz, Mouna Tabebi, Ghada Ben Salah, Naziha Kaabechi, Leila Keskes, Chahnez Triki, Hassen Kamoun
INTRODUCTION: X-linked adrenoleukodystrophy is a neurodegenerative recessive disorder that affects the brain white matter and associated with adrenal insufficiency. It is characterized by an abnormal function of the peroxisomes, which leads to an accumulation of the Very Long Chain Fatty Acids (VLCFA) in plasma and tissues, especially in the cortex of the adrenal glands and the white matter of the central nervous system. Mutations in the ABCD1 gene affect the function of the encoded protein ALDP, an ATP-binding cassette transporter located in the peroxisomal membrane protein...
January 30, 2016: Clinica Chimica Acta; International Journal of Clinical Chemistry
https://www.readbyqxmd.com/read/26684655/novel-therapeutic-targets-and-drug-candidates-for-modifying-disease-progression-in-adrenoleukodystrophy
#18
REVIEW
Aurora Pujol
X-linked adrenoleukodystrophy (X-ALD) is the most frequent inherited monogenic demyelinating disease. It is often lethal and currently lacks a satisfactory therapy. The disease is caused by loss of function of the ABCD1 gene, a peroxisomal ATP-binding cassette transporter, resulting in the accumulation of very-long-chain fatty acids (VLCFA) in organs and plasma. Recent findings on pathomechanisms of the peroxisomal neurometabolic disease X-ALD have provided important clues on therapeutic targets. Here we describe the impact of chronic redox imbalance caused by the excess VLCFA on mitochondrial biogenesis and respiration, and explore the consequences on the protein quality control systems essential for cell survival, such as the proteasome and autophagic flux...
2016: Endocrine Development
https://www.readbyqxmd.com/read/26609365/an-unusual-presentation-of-x-linked-adrenoleukodystrophy
#19
Avinash Suryawanshi, Timothy Middleton, Kirtan Ganda
UNLABELLED: X-linked adrenoleukodystrophy (X-ALD) is a rare genetic condition caused by mutations in the ABCD1 gene that result in accumulation of very long chain fatty acids (VLCFAs) in various tissues. This leads to demyelination in the CNS and impaired steroidogenesis in the adrenal cortex and testes. A 57-year-old gentleman was referred for the assessment of bilateral gynaecomastia of 6 months duration. He had skin hyperpigmentation since 4 years of age and spastic paraparesis for the past 15 years...
2015: Endocrinology, Diabetes & Metabolism Case Reports
https://www.readbyqxmd.com/read/26607867/a-novel-mutation-in-the-abcd1-gene-of-a-moroccan-patient-with-x-linked-adrenoleukodystrophy-case-report
#20
Adnane Karkar, Abdelhamid Barakat, Amina Bakhchane, Houda Fettah, Ilham Slassi, Imen Dorboz, Odile Boespflug-Tanguy, Sellama Nadifi
BACKGROUND: X-linked adrenoleukodystrophy (X-ALD; OMIM: 300100) is the most common peroxisomal disease caused by mutations in the ATP-binding cassette, sub-family D member 1 gene or ABCD1 (geneID: 215), the coding gene for the adrenoleukodystrophy protein (ALDP), which is an ATP-binding transport protein associated to an active transport of very long chain fatty acids (VLCFAs). Dysfunction of ALDP induces an accumulation of VLCFAs in all tissues leading to a neurodegenerative disorder that involves the nervous system white matter...
2015: BMC Neurology
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