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Q Raas, C Gondcaille, Y Hamon, V Leoni, C Caccia, F Ménétrier, G Lizard, D Trompier, S Savary
X-linked adrenoleukodystrophy (X-ALD), the most frequent peroxisomal disorder, is associated with mutation in the ABCD1 gene which encodes a peroxisomal ATP-binding cassette transporter for very long-chain fatty acids (VLCFA). The biochemical hallmark of the disease is the accumulation of VLCFA. Peroxisomal defect in microglia being now considered a priming event in the pathology, we have therefore generated murine microglial cells mutated in the Abcd1 gene and its closest homolog, the Abcd2 gene. Using CRISPR/Cas9 gene editing strategy, we obtained 3 cell clones with a single or double deficiency...
February 12, 2019: Biochimica et biophysica acta. Molecular and cell biology of lipids
Santiago Paláu-Hernández, Ildefonso Rodriguez-Leyva, Juan Manuel Shiguetomi-Medina
Our objective is to review the initial presentation, evolution, progression, final stage, and images in the follow up of an adult patient who presented an uncommon peroxisomal disease (1/20,000 males) that occurred by ABCD1 gene mutation in the Xq28 chromosome; to bring forward the imaging features (which nowadays is the most useful and accessible diagnostic tool) and clinical presentation of adrenoleukodystrophy in adulthood; to propose a differential diagnosis in aid of a prompt recognition of the disease hereafter from a neurologist approach...
March 2019: ENeurologicalSci
Tresa J Stradomska
Peroxisomes are multifunctional microorganelles that play a key role in numerous biochemical processes adapting dynamically to the current physiological requirements of the cell. The disturbance of the peroxisome structure due to mutations in different PEX and non-PEX genes coding functional peroxisomal proteins is the pathogenic basis of the peroxisomal disorders. The β-oxidation process of very long-chain fatty acids (VLCFA) is a unique metabolic pathway located exclusively in the peroxisome. This determines that VLCFA is the main biomarker for the diagnosis of peroxisomal diseases...
December 29, 2018: Postepy Biochemii
Paul J Orchard, David R Nascene, Weston P Miller, Ashish Gupta, Dan Kenney-Jung, Troy C Lund
Adrenoleukodystrophy (ALD) is caused by mutations within the X-linked ABCD1 gene resulting in the inability to transport acylated very long chain fatty acids (VLCFA) into the peroxisome for degradation. VLCFA subsequently accumulate in tissues, including the central nervous system. Up to 40% of boys develop a severe, progressive demyelinating form of ALD, cerebral ALD (cALD), resulting in regions of demyelination observed on brain magnetic resonance imaging (MRI) that are associated with a "garland ring" of gadolinium contrast enhancement...
January 11, 2019: Blood
Minoru Nagano, Chikako Kakuta, Yoichiro Fukao, Masayuki Fujiwara, Hirofumi Uchimiya, Maki Kawai-Yamada
Bax inhibitor-1 (BI-1) is a widely conserved cell death regulator that confers resistance to environmental stress in plants. Previous studies suggest that Arabidopsis thaliana BI-1 (AtBI-1) modifies sphingolipids by interacting with cytochrome b5 (AtCb5), an electron-transfer protein. To reveal how AtBI-1 regulates sphingolipid synthesis, we screened yeast sphingolipid-deficient mutants and identified yeast ELO2 and ELO3 as novel enzymes that are essential for AtBI-1 function. ELO2 and ELO3 are condensing enzymes that synthesize very-long-chain fatty acids (VLCFAs), major fatty acids in plant sphingolipids...
January 2, 2019: Journal of Plant Research
Pengfei Cheng, Chengxu Zhou, Yan Wang, Zhihui Xu, Jilin Xu, Dongqing Zhou, Yinghui Zhang, Haizhen Wu, Xuezhi Zhang, Tianzhong Liu, Ming Tang, Qiyong Yang, Xiaojun Yan, Jianhua Fan
Background: Botryococcus braunii is known for its high hydrocarbon content, thus making it a strong candidate feedstock for biofuel production. Previous study has revealed that a high cobalt concentration can promote hydrocarbon synthesis and it has little effect on growth of B. braunii cells. However, mechanisms beyond the cobalt enrichment remain unknown. This study seeks to explore the physiological and transcriptional response and the metabolic pathways involved in cobalt-induced hydrocarbon synthesis in algae cells...
2018: Biotechnology for Biofuels
Teresa Płatek, Evelyn Orso, Barbara Zapała, Anna Polus, Beata Kieć-Wilk, Monika Piwowar, Monika Chojnacka, Urszula Ciałowicz, Małgorzata Malczewska-Malec, Gerd Schmitz, Bogdan Solnica, Aldona Dembińska-Kieć
RATIONALE: X-linked adrenoleukodystrophy (X-ALD) is a rare disorder caused by mutations in the ABCD1 gene, coding for peroxisomal membrane transporter adrenoleukodystrophy (ALD) protein. The disease is characterized by accumulation of very long chain fatty acids (VLCFAs) in tissues. Adult adrenomyeloneuropathy (AMN) and the cerebral inflammatory form of ALD are the main phenotypes presenting various symptoms. PATIENT CONCERNS: We report a case of 37-year-old patient with diagnosis of X-ALD, confirmed based on elevated VLCFA concentrations and genetic testing of ABCD1 gene...
December 2018: Medicine (Baltimore)
Noomi Mueller, Takayuki Sassa, Susanne Morales-Gonzalez, Joanna Schneider, Daniel J Salchow, Dominik Seelow, Ellen Knierim, Werner Stenzel, Akio Kihara, Markus Schuelke
BACKGROUND: Very long-chain fatty acids (VLCFAs) are essential for functioning of biological membranes. ELOVL fatty acid elongase 1 catalyses elongation of saturated and monounsaturated C22-C26-VLCFAs. We studied two patients with a dominant ELOVL1 mutation. Independently, Kutkowska-Kaźmierczak et al. had investigated the same patients and found the same mutation. We extended our study towards additional biochemical, functional, and therapeutic aspects. METHODS: We did mutation screening by whole exome sequencing...
November 28, 2018: Journal of Medical Genetics
Rachidi Farid, Chanda Mutale-Joan, Benhima Redouane, E L Mernissi Najib, Aasfar Abderahime, Sbabou Laila, E L Arroussi Hicham
Microalgae are photosynthetic microorganisms that produce several bioactive molecules that have received considerable attention in scientific and industrial communities. Today, many plant biostimulants including seaweed extracts and polysaccharides are used in agriculture. However, microalgae have not been largely exploited in this field as a potential source of plant bio stimulants. This study investigated the biostimulatory effects of microalgae polysaccharides on different metabolomic and biochemical pathways related to plant defense...
November 12, 2018: Applied Biochemistry and Biotechnology
Yi Gong, Anna Berenson, Fiza Laheji, Guangping Gao, Dan Wang, Carrie Ng, Adrienn Volak, Rene Kok, Vasileios Kreouzis, Inge Dijkstra, Stephan Kemp, Casey A Maguire, Florian Eichler
Mutations in the gene encoding the peroxisomal ATP binding cassette transporter (ABCD1) cause elevations in very long chain fatty acids (VLCFA) and the neurodegenerative disease adrenoleukodystrophy (ALD). In most adults, this manifests as the spinal cord axonopathy, adrenomyeloneuropathy (AMN). A challenge in virus-based gene therapy in AMN is how to achieve functional gene correction to the entire spinal cord while minimizing leakage into the systemic circulation, which could contribute to toxicity. In the present study, we used an osmotic pump to deliver adeno-associated virus (AAV) vector into the lumbar CSF space in mice...
October 25, 2018: Human Gene Therapy
Q Raas, F-E Saih, C Gondcaille, D Trompier, Y Hamon, V Leoni, C Caccia, B Nasser, M Jadot, F Ménétrier, G Lizard, M Cherkaoui-Malki, P Andreoletti, S Savary
Acyl-CoA oxidase 1 (ACOX1) deficiency is a rare and severe peroxisomal leukodystrophy associated with a very long-chain fatty acid (VLCFA) β-oxidation defect. This neurodegenerative disease lacks relevant cell models to further decipher the pathomechanisms in order to identify novel therapeutic targets. Since peroxisomal defects in microglia appear to be a key component of peroxisomal leukodystrophies, we targeted the Acox1 gene in the murine microglial BV-2 cell line. Using CRISPR/Cas9 gene editing, we generated an Acox1-deficient cell line and validated the allelic mutations, which lead to the absence of ACOX1 protein and enzymatic activity...
October 10, 2018: Biochimica et biophysica acta. Molecular and cell biology of lipids
Pammi Subhashini, Sampangi Jaya Krishna, Ganni Usha Rani, Nooguri Sushma Chander, Gummadi Maheshwar Reddy, Shaik Mohammad Naushad
We have established diagnostic thresholds of very long-chain fatty acids (VLCFA) for the differential diagnosis of peroxisomal disorders using the machine learning tools. The plasma samples of 131 controls and 90 cases were tested for VLCFA using Gas chromatography-Mass spectrometry following stable isotope dilution. This data was used to construct association rules and for recursive partitioning. The C26/22 in healthy controls ranged between 0.008 - 0.01. The C26 levels between 1.61 - 3.34 µmol/L and C26/C22 between 0...
October 8, 2018: Journal of Biochemistry
Tommaso Schirinzi, Gessica Vasco, Chiara Aiello, Cristiano Rizzo, Andrea Sancesario, Alberto Romano, Martina Favetta, Maurizio Petrarca, Laura Paone, Enrico Castelli, Enrico Silvio Bertini, Marco Cappa
BACKGROUND: The therapeutic scenario of X-linked adrenoleukodystrophy (X-ALD) is rapidly changing. Whereas the disease is well characterized in males, the condition remains to be fully clarified in women carrying ABCD1 variants. Specifically, data on clinical progression are needed, in order to recommend any appropriate management. Objective of this study is to outline the natural history of a cohort of untreated ABCD1 heterozygous female carries. METHODS: Longitudinal data from a single-center population of 60 carriers were retrospectively reviewed...
October 8, 2018: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
Sujeong Park, Jinjoo Oh, Yong-Il Kim, Seong-Kyu Choe, Churl-Hong Chun, Eun-Jung Jin
Even though increasing evidence indicates the importance of peroxisomal lipid metabolism in regulating biological and pathological events, its involvement in cartilage development has not been well studied. Here, we identified the importance of peroxisomal function, particularly the functional integrity of ABCD2, in the pathogenesis of osteoarthritis (OA). Knockdown of ABCD2 in OA chondrocytes induced the accumulation of very long chain fatty acids (VLCFAs) and apoptotic cell death. Moreover, knockdown of ABCD2 altered profiles of miRNAs that affect the expression level of ACSL4, a known direct regulator of lipid metabolism...
October 2018: Cell Biochemistry and Function
Utsav Joshi, James E Evans, Ross Joseph, Tanja Emmerich, Nicole Saltiel, Carlyn Lungmus, Sarah Oberlin, Heather Langlois, Joseph Ojo, Benoit Mouzon, Daniel Paris, Michael Mullan, Chao Jin, Nancy Klimas, Kimberly Sullivan, Fiona Crawford, Laila Abdullah
There are nearly 250,000 Gulf War (GW) veterans who suffer from Gulf War Illness (GWI), a multi-symptom condition that remains untreatable. The main objective was to determine if targeting peroxisomal function could be of therapeutic value in GWI. We performed a pilot study that showed accumulation of very long chain fatty acids (VLCFA), which are metabolized in peroxisomes, in plasma from veterans with GWI. We then examined if targeting peroxisomal β-oxidation with oleoylethanolamide (OEA) restores these lipids to the normal levels and mitigates neuroinflammation and neurobehavioral deficits in a well-established mouse model of GWI...
August 27, 2018: Scientific Reports
Thomas Nury, Randa Sghaier, Amira Zarrouk, Franck Ménétrier, Tugba Uzun, Valerio Leoni, Claudio Caccia, Wiem Meddeb, Amira Namsi, Khouloud Sassi, Wafa Mihoubi, Jean-Marc Riedinger, Mustapha Cherkaoui-Malki, Thibault Moreau, Anne Vejux, Gérard Lizard
The involvement of organelles in cell death is well established especially for endoplasmic reticulum, lysosomes and mitochondria. However, the role of the peroxisome is not well known, though peroxisomal dysfunction favors a rupture of redox equilibrium. To study the role of peroxisomes in cell death, 158 N murine oligodendrocytes were treated with 7-ketocholesterol (7 KC: 25-50 μM, 24 h). The highest concentration is known to induce oxiapoptophagy (OXIdative stress + APOPTOsis + autoPHAGY), whereas the lowest concentration does not induce cell death...
October 2018: Biochimie
Iuliana Popa, Adrian L Watson, Audrey Solgadi, Christina Butowski, David Allaway, Jacques Portoukalian
Few studies have investigated the influence of increased amounts of dietary linoleic acid on the epidermal lipid biochemistry and TEWL in healthy subject. The influence of dietary linoleic acid on canine stratum corneum (SC) lipids was studied by feeding two groups of five dogs differential amounts of linoleic acid (LA) for three months. SC was harvested by tape stripping and lipids were analyzed by thin-layer chromatography and mass spectrometry. The dogs that were fed the higher concentration of LA showed high increases in the contents of both linoleic acid and free ceramides in the SC, whereas the protein-bound ceramide content was unchanged...
July 11, 2018: Archives of Dermatological Research
Julia Sellin, Christian Wingen, Dominic Gosejacob, Deniz Senyilmaz, Lea Hänschke, Sven Büttner, Katharina Meyer, Daniele Bano, Pierluigi Nicotera, Aurelio A Teleman, Margret H Bülow
Mutations in peroxin (PEX) genes lead to loss of peroxisomes, resulting in the formation of peroxisomal biogenesis disorders (PBDs) and early lethality. Studying PBDs and their animal models has greatly contributed to our current knowledge about peroxisomal functions. Very-long-chain fatty acid (VLCFA) accumulation has long been suggested as a major disease-mediating factor, although the exact pathological consequences are unclear. Here, we show that a Drosophila Pex19 mutant is lethal due to a deficit in medium-chain fatty acids (MCFAs)...
June 2018: PLoS Biology
Naiyanate Jaroensanti-Tanaka, Sho Miyazaki, Akito Hosoi, Keisuke Tanaka, Shinsaku Ito, Satoshi Iuchi, Takeshi Nakano, Masatomo Kobayashi, Masatoshi Nakajima, Tadao Asami
We previously found a chemical, designated as NJ15, which inhibited both auxin and brassinosteroid responses in dark-grown Arabidopsis. To study its mode of action, we performed a phenotypic screening of NJ15-low-sensitive lines among mutant pools of Arabidopsis. One line (f127) showed clear NJ15-low-sensitivity in terms of hypocotyl elongation and shoot gravitropism. After further testing, it was determined that DCR, an enzyme involved in cutin polymerization, had lost its function in the mutant, which caused its low sensitivity to NJ15...
October 2018: Bioscience, Biotechnology, and Biochemistry
Ruth Campe, Eva Hollenbach, Lara Kämmerer, Janneke Hendriks, Hans Wolfgang Höffken, Helmut Kraus, Jens Lerchl, Thomas Mietzner, Stefan Tresch, Matthias Witschel, Johannes Hutzler
The prevalent occurrence of herbicide resistant weeds increases the necessity for new site of action herbicides for effective control as well as to relax selection pressure on the known sites of action. As a consequence, interest increased in the unexploited molecule cinmethylin as a new solution for the control of weedy grasses in cereals. Therefore, the mechanism of action of cinmethylin was reevaluated. We applied the chemoproteomic approach cellular Target Profiling™ from Evotec to identify the cinmethylin target in Lemna paucicostata protein extracts...
June 2018: Pesticide Biochemistry and Physiology
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