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Succinate dehydrogenase

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https://www.readbyqxmd.com/read/28219702/genetic-alterations-in-krebs-cycle-and-its-impact-on-cancer-pathogenesis
#1
REVIEW
Karishma Sajnani, Farhadul Islam, Robert Anthony Smith, Vinod Gopalan, Alfred King-Yin Lam
Cancer cells exhibit alterations in many cellular processes, including oxygen sensing and energy metabolism. Glycolysis in non-oxygen condition is the main energy production process in cancer rather than mitochondrial respiration as in benign cells. Genetic and epigenetic alterations of Krebs cycle enzymes favour the shift of cancer cells from oxidative phosphorylation to anaerobic glycolysis. Mutations in genes encoding aconitase, isocitrate dehydrogenase, succinate dehydrogenase, fumarate hydratase, and citrate synthase are noted in many cancers...
February 17, 2017: Biochimie
https://www.readbyqxmd.com/read/28213850/gamma-hydroxybutyrate-ghb-content-in-hair-samples-correlates-negatively-with-age-in-succinic-semialdehyde-dehydrogenase-deficiency
#2
S S Johansen, X Wang, D Sejer Pedersen, P L Pearl, J-B Roullet, G R Ainslie, K R Vogel, K M Gibson
Gamma-hydroxybutyrate (GHB) is a drug of abuse, an approved therapeutic for narcolepsy, an agent employed for facilitation of sexual assault, as well as a biomarker of succinic semialdehyde dehydrogenase deficiency (SSADHD). Our laboratory seeks to identify surrogate biomarkers in SSADHD that can shed light on the developmental course of this neurometabolic disease. Since GHB may be quantified in hair as a potential surrogate to identify victims of drug-related assault, we have opted to examine its level in SSADHD...
February 18, 2017: JIMD Reports
https://www.readbyqxmd.com/read/28209841/salicylic-acid-dependent-plant-stress-signalling-via-mitochondrial-succinate-dehydrogenase
#3
Katharina Belt, Shaobai Huang, Louise F Thatcher, Hayley Casarotto, Karam Singh, Olivier Van Aken, A Harvey Millar
Mitochondria are known for their role in ATP production and generation of reactive oxygen species (ROS), but little is known about the mechanism of their early involvement in plant stress signalling. The role of mitochondrial succinate dehydrogenase (SDH) in salicylic acid (SA) signalling was analysed using two mutants; disrupted in stress response 1 (dsr1) which is a point mutation in SDH1 identified in a loss of SA signalling screen, and a knockdown mutant (sdhaf2) for SDH assembly factor 2 that is required for FAD insertion into SDH1...
February 16, 2017: Plant Physiology
https://www.readbyqxmd.com/read/28197946/alterations-in-the-skin-of-labeo-rohita-exposed-to-an-azo-dye-eriochrome-black-t-a-histopathological-and-enzyme-biochemical-investigation
#4
Ayan Srivastava, Neeraj Verma, Arup Mistri, Brijesh Ranjan, Ashwini Kumar Nigam, Usha Kumari, Swati Mittal, Ajay Kumar Mittal
Histopathological changes and alterations in the activity of certain metabolic and antioxidant enzymes were analyzed in the head skin of Labeo rohita, exposed to sublethal test concentrations of the azo dye, Eriochrome black T for 4 days, using 24 h renewal bioassay method. Hypertrophied epithelial cells, increased density of mucous goblet cells, and profuse mucous secretion at the surface were considered to protect the skin from toxic impact of the azo dye. Degenerative changes including vacuolization, shrinkage, decrease in dimension, and density of club cells with simultaneous release of their contents in the intercellular spaces were associated to plug them, preventing indiscriminate entry of foreign matter...
February 15, 2017: Environmental Science and Pollution Research International
https://www.readbyqxmd.com/read/28196207/correlation-of-long-term-results-of-imatinib-in-advanced-gastrointestinal-stromal-tumors-with-next-generation-sequencing-results-analysis-of-phase-3-swog-intergroup-trial-s0033
#5
Michael Heinrich, Cathryn Rankin, Charles D Blanke, George D Demetri, Ernest C Borden, Christopher W Ryan, Margaret von Mehren, Martin E Blackstein, Dennis A Priebat, William D Tap, Robert G Maki, Christopher L Corless, Jonathan A Fletcher, Kouros Owzar, John J Crowley, Robert S Benjamin, Laurence H Baker
Importance: After identification of activating mutations of the KIT gene in gastrointestinal stromal tumor (GIST)-the most common sarcomaof the gastrointestinal tract-a phase 2 study demonstrated efficacy of imatinib mesylate in patients with metastatic GIST harboring a KIT exon 11 mutation. Initial results of long-term follow-up have found a survival benefit in this subgroup of patients. Obective: To assess the long-term survival of patients with GIST who were treated in SWOG study S0033 and to present new molecular data regarding treatment outcomes...
February 9, 2017: JAMA Oncology
https://www.readbyqxmd.com/read/28186584/-identification-of-aldh5a1-gene-mutations-in-a-chinese-family-affected-with-succinic-semialdehyde-dehydrogenase-deficiency
#6
Jianbo Shu, Fengying Cai, Wenxuan Fan, Yingtao Meng, Chunhua Zhang, Chunquan Cai, Yuqin Zhang, Shuxiang Lin
OBJECTIVE: To detect potential mutation in a Chinese family affected with succinic semialdehyde dehydrogenase deficiency. METHODS: Genomic DNA was extracted from the peripheral blood samples of the proband, her family members and 100 healthy controls. All exons and flanking intronic regions of the ALDH5A1 gene were amplified by PCR and subjected to direct sequencing. RESULTS: The proband was found to have compound heterozygous mutations of the ALDH5A1 gene, namely c...
February 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28185716/mitochondrial-complex-ii-at-the-crossroads
#7
REVIEW
Ayenachew Bezawork-Geleta, Jakub Rohlena, Lanfeng Dong, Karel Pacak, Jiri Neuzil
Mitochondrial complex II (CII), also called succinate dehydrogenase (SDH), is a central purveyor of the reprogramming of metabolic and respiratory adaptation in response to various intrinsic and extrinsic stimuli and abnormalities. In this review we discuss recent findings regarding SDH biogenesis, which requires four known assembly factors, and modulation of its enzymatic activity by acetylation, succinylation, phosphorylation, and proteolysis. We further focus on the emerging role of both genetic and epigenetic aberrations leading to SDH dysfunction associated with various clinical manifestations...
February 6, 2017: Trends in Biochemical Sciences
https://www.readbyqxmd.com/read/28183820/sarcolipin-expression-is-not-required-for-the-mitochondrial-enzymatic-response-to-physical-activity-or-diet
#8
Daniel Gamu, Anton Trinh, Val A Farjado, Eric Bombardier, A Russell Tupling
In mice, transgenic manipulation of Ca(2+)-handling proteins is sufficient to alter the metabolic phenotype of muscle. We have previously shown that ablation of sarcolipin (SLN), a regulatory protein and uncoupler of sarco(endo)plasmic reticulum Ca(2+)-ATPases, leads to excessive diet-induced obesity and glucose intolerance in mice. However, it is unclear how loss of SLN per se affects muscle oxidative capacity and the ability of mitochondria to adapt to physiological stimuli such as exercise training or calorie overload...
February 9, 2017: Journal of Applied Physiology
https://www.readbyqxmd.com/read/28179334/potential-pitfalls-of-sdh-immunohistochemical-detection-in-paragangliomas-and-phaeochromocytomas-harbouring-germline-sdhx-gene-mutation
#9
Raffaella Santi, Elena Rapizzi, Letizia Canu, Tonino Ercolino, Gianna Baroni, Rossella Fucci, Giuseppe Costa, Massimo Mannelli, Gabriella Nesi
BACKGROUND/AIM: Germline mutations in any of the succinate dehydrogenase (SDH) genes result in destabilization of the SDH protein complex and loss of SDHB expression at immunohistochemistry. SDHA is lost together with SDHB in SDHA-mutated tumours, but its expression is retained in tumours with other SDH mutations. We investigated whether SDHA/SDHB immunohistochemistry is able to identify SDH-related tumours in a retrospective case series of phaeochromocytomas (PCCs) and paragangliomas (PGLs)...
2017: Anticancer Research
https://www.readbyqxmd.com/read/28165631/a-distinctive-low-grade-oncocytic-fumarate-hydratase-deficient-renal-cell-carcinoma-morphologically-reminiscent-of-sdh-deficient-renal-cell-carcinoma
#10
Steven C Smith, Deepika Sirohi, Chisato Ohe, Jonathan B McHugh, Jason L Hornick, Jigna Kalariya, Sushil Karia, Katie Snape, Shirley V Hodgson, Andi K Cani, Daniel Hovelson, Daniel J Luthringer, Guido Martignoni, Ying-Bei Chen, Scott A Tomlins, Rohit Mehra, Mahul B Amin
AIMS: Fumarate hydratase-deficient renal cell carcinoma (FH-deficient RCC) is a high grade, aggressive tubulopapillary carcinoma, arising predominantly in the setting of the hereditary leiomyomatosis-renal cell carcinoma syndrome of familial uterocutaneous leiomyomatosis and deficiency of fumarate hydratase. In contrast, succinate dehydrogenase (SDH)-deficient RCC is a lower grade oncocytic carcinoma with cytoplasmic flocculence/vacuolation and inclusions, arising mostly in individuals harboring germline mutations of subunit B of the SDH complex (SDHB)...
February 6, 2017: Histopathology
https://www.readbyqxmd.com/read/28164237/cowden-syndrome-associated-germline-succinate-dehydrogenase-complex-subunit-d-sdhd-variants-cause-pten-mediated-down-regulation-of-autophagy-in-thyroid-cancer-cells
#11
Wanfeng Yu, Ying Ni, Motoyasu Saji, Matthew D Ringel, Ritika Jaini, Charis Eng
No abstract text is available yet for this article.
February 6, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28158325/succinate-dehydrogenase-gene-mutation-with-cardiac-paraganglioma-multimodality-imaging-and-pathological-correlation
#12
Simone Romano, Cristiano Fava, Pietro Minuz, Afshin Farzaneh-Far
No abstract text is available yet for this article.
January 30, 2017: European Heart Journal
https://www.readbyqxmd.com/read/28153765/modular-pathway-engineering-of-corynebacterium-glutamicum-to-improve-xylose-utilization-and-succinate-production
#13
Suah Jo, Jinkyung Yoon, Sun-Mi Lee, Youngsoon Um, Sung Ok Han, Han Min Woo
Xylose-negative Corynebacterium glutamicum has been engineered to utilize xylose as the sole carbon source via either the xylose isomerase (XI) pathway or the Weimberg pathway. Heterologous expression of xylose isomerase and overexpression of a gene encoding for xylulose kinase enabled efficient xylose utilization. In this study, we show that two functionally-redundant transcriptional regulators (GntR1 and GntR2) present on xylose repress the pentose phosphate pathway genes. For efficient xylose utilization, pentose phosphate pathway genes and a phosphoketolase gene were overexpressed through - with the XI pathway in C...
January 30, 2017: Journal of Biotechnology
https://www.readbyqxmd.com/read/28141910/the-mechanism-of-valproic-acid-induced-fanconi-syndrome-involves-mitochondrial-dysfunction-and-oxidative-stress-in-rat-kidney
#14
Reza Heidari, Faezeh Jafari, Forouzan Khodaei, Babak Shirazi Yeganeh, Hossein Niknahad
AIM: Drug-induced kidney proximal tubular injury and renal failure (Fanconi syndrome; FS) is a clinical complication. Valproic acid (VPA) is among the FS-inducing drugs. The current investigation was designed to evaluate the role of mitochondrial dysfunction and oxidative stress in VPA-induced renal injury. METHODS: Animals received VPA (250 and 500 mg/kg, i.p., 15 consecutive days). Serum biomarkers of kidney injury and markers of oxidative stress were assessed...
January 31, 2017: Nephrology
https://www.readbyqxmd.com/read/28131843/inhibition-of-drp1-attenuates-mitochondrial-damage-and-myocardial-injury-in-coxsackievirus-b3-induced-myocarditis
#15
Lin Lin, Ming Zhang, Rui Yan, Hu Shan, Jiayu Diao, Jin Wei
Viral myocarditis (VMC) is closely related to apoptosis, oxidative stress, innate immunity, and energy metabolism, which are all linked to mitochondrial dysfunction. A close nexus between mitochondrial dynamics and cardiovascular disease with mitochondrial dysfunction has been deeply researched, but there is still no relevant report in viral myocarditis. In this study, we aimed to explore the role of Dynamin-related protein 1 (Drp1)-linked mitochondrial fission in VMC. Mice were inoculated with the Coxsackievirus B3 (CVB3) and treated with mdivi1 (a Drp1 inhibitor)...
March 11, 2017: Biochemical and Biophysical Research Communications
https://www.readbyqxmd.com/read/28130400/genome-wide-analyses-identifies-men1-and-max-mutations-and-a-neuroendocrine-like-molecular-heterogeneity-in-quadruple-wt-gist
#16
Maria A Pantaleo, Milena Urbini, Valentina Indio, Gloria Ravegnini, Margherita Nannini, Matilde De Luca, Giuseppe Tarantino, Sabrina Angelini, Alessandro Gronchi, Bruno Vincenzi, Giovanni Grignani, Chiara Colombo, Elena Fumagalli, Lidia Gatto, Maristella Saponara, Manuela Ianni, Paola Paterini, Donatella Santini, Maria Giulia Pirini, Claudio Ceccarelli, Annalisa Altimari, Elisa Gruppioni, Salvatore L Renne, Paola Collini, Silvia Stacchiotti, Giovanni Brandi, Paolo G Casali, Antonio D Pinna, Annalisa Astolfi, Guido Biasco
: Quadruple wild-type (WT) gastrointestinal stromal tumors (GIST) is a genomic subgroup lacking KIT/PDGFRA/RAS pathways mutations, with an intact succinate dehydrogenase (SDH) complex. The aim of this work is to perform a wide comprehensive genomic study on quadruple WT GIST to improve the characterization of these patients. We selected 14 clinical cases of quadruple WT GIST, of which nine cases showed sufficient DNA quality for Whole Exome Sequencing (WES). NF1 alterations were identified directly by WES...
January 27, 2017: Molecular Cancer Research: MCR
https://www.readbyqxmd.com/read/28126665/profiling-of-jejunum-inflammatory-gene-expression-during-murine-eimeriosis
#17
Mohamed A Dkhil, Mona Khalil, Saleh Al-Quraishy
To understand the host-parasite relationship during coccidiosis it is necessary to identify the transcriptional profile of the local host. In this study, gene profiling in the mouse jejunum due to infection with Eimeria papillata was investigated using Agilent microarray technology. On day 5 post-infection, the characterization of infected and non-infected mice jejunum transcriptional response was compared. There was an increase in the level of tumour necrosis factor-α, nitrite/nitrate and nitric oxide synthase activity was observed following infection...
January 23, 2017: Microbial Pathogenesis
https://www.readbyqxmd.com/read/28120550/pheochromocytomas-and-paragangliomas-in-humans-and-dogs
#18
REVIEW
S Galac, E Korpershoek
Pheochromocytomas (PCCs) and paragangliomas (PGLs) are described in several species. In humans and dogs they have many similarities: the excessive catecholamine release in hormonally active PCC causes similar clinical signs, the frequency of metastasis is similar, and they are histopathologically almost identical. Surgery is curative when PCC and PGL have not metastasized, while only palliative treatment is possible for patients with metastatic disease. Mutations in succinate dehydrogenase subunit B (SDHB) are associated with metastatic behaviour in human PCC/PGL and the same mutation has been described in dogs...
January 25, 2017: Veterinary and Comparative Oncology
https://www.readbyqxmd.com/read/28119166/in-vitro-toxicological-evaluation-of-ncs-382-a-high-affinity-antagonist-of-%C3%AE-hydroxybutyrate-ghb-binding
#19
K R Vogel, G R Ainslie, J-B Roullet, A McConnell, K M Gibson
γ-Hydroxybutyric acid (GHB), a minor metabolite of the inhibitory neurotransmitter GABA, can accumulate to significant concentrations in the heritable disorder of GABA degradation, succinic semialdehyde dehydrogenase (SSADH) deficiency (SSADHD). Moreover, GHB may be employed in therapeutic settings (treatment of narcolepsy), as well as instances of illicit activity, including acquaintance sexual assault and the induction of euphoria. High-affinity binding sites for GHB in the brain have been identified, although the absolute identity of these receptors remains unclear...
January 22, 2017: Toxicology in Vitro: An International Journal Published in Association with BIBRA
https://www.readbyqxmd.com/read/28114403/proline-metabolism-is-essential-for-trypanosoma-brucei-brucei-survival-in-the-tsetse-vector
#20
Brian S Mantilla, Letícia Marchese, Aitor Casas-Sánchez, Naomi A Dyer, Nicholas Ejeh, Marc Biran, Frédéric Bringaud, Michael J Lehane, Alvaro Acosta-Serrano, Ariel M Silber
Adaptation to different nutritional environments is essential for life cycle completion by all Trypanosoma brucei sub-species. In the tsetse fly vector, L-proline is among the most abundant amino acids and is mainly used by the fly for lactation and to fuel flight muscle. The procyclic (insect) stage of T. b. brucei uses L-proline as its main carbon source, relying on an efficient catabolic pathway to convert it to glutamate, and then to succinate, acetate and alanine as the main secreted end products. Here we investigated the essentiality of an undisrupted proline catabolic pathway in T...
January 2017: PLoS Pathogens
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