Literature DB >> 23723300

Genotype-specific abnormalities in mitochondrial function associate with distinct profiles of energy metabolism and catecholamine content in pheochromocytoma and paraganglioma.

Jyotsna U Rao1, Udo F H Engelke, Richard J T Rodenburg, Ron A Wevers, Karel Pacak, Graeme Eisenhofer, Nan Qin, Benno Kusters, Angelina G Goudswaard, Jacques W M Lenders, Ad R M M Hermus, Arjen R Mensenkamp, Henricus P M Kunst, Fred C G J Sweep, Henri J L M Timmers.   

Abstract

PURPOSE: Pheochromocytomas and paragangliomas (PGL) are neuroendocrine tumors of sympathetic and parasympathetic paraganglia. This study investigated the relationships between genotype-specific differences in mitochondrial function and catecholamine content in PGL tumors. EXPERIMENTAL
DESIGN: Respiratory chain enzyme assays and (1)H-nuclear magnetic resonance (NMR) spectroscopy at 500 MHz were conducted on homogenates of 35 sporadic PGLs and 59 PGLs from patients with hereditary mutations in succinate dehydrogenase subunits B and D (SDHB, SDHD), succinate dehydrogenase assembly factor 2, von Hippel-Lindau (VHL), rearranged during transfection (RET), neurofibromatosis type 1 (NF1), and myc-associated factor X.
RESULTS: In SDHx-related PGLs, a significant decrease in complex II activity (P < 0.0001) and a significant increase in complex I, III, and IV enzyme activities were observed when compared to sporadic, RET, and NF1 tumors. Also, a significant increase in citrate synthase (P < 0.0001) enzyme activity was observed in SDHx-related PGLs when compared to sporadic-, VHL-, RET-, and NF1-related tumors. An increase in succinate accumulation (P < 0.001) and decrease in ATP/ADP/AMP accumulation (P < 0.001) was observed when compared to sporadic PGLs and PGLs of other genotypes. Positive correlations (P < 0.01) were observed between respiratory chain complex II activity and total catecholamine content and ATP/ADP/AMP and total catecholamine contents in tumor tissues.
CONCLUSIONS: This study for the first time establishes a relationship between determinants of energy metabolism, like activity of respiratory chain enzyme complex II, ATP/ADP/AMP content, and catecholamine content in PGL tumors. Also, this study for the first time successfully uses NMR spectroscopy to detect catecholamines in PGL tumors and provides ex vivo evidence for the accumulation of succinate in PGL tumors with an SDHx mutation.

Entities:  

Mesh:

Substances:

Year:  2013        PMID: 23723300      PMCID: PMC3715587          DOI: 10.1158/1078-0432.CCR-12-3922

Source DB:  PubMed          Journal:  Clin Cancer Res        ISSN: 1078-0432            Impact factor:   12.531


  33 in total

Review 1.  Plasma membrane monoamine transporters: structure, regulation and function.

Authors:  Gonzalo E Torres; Raul R Gainetdinov; Marc G Caron
Journal:  Nat Rev Neurosci       Date:  2003-01       Impact factor: 34.870

2.  Plasma methoxytyramine: a novel biomarker of metastatic pheochromocytoma and paraganglioma in relation to established risk factors of tumour size, location and SDHB mutation status.

Authors:  Graeme Eisenhofer; Jacques W M Lenders; Gabriele Siegert; Stefan R Bornstein; Peter Friberg; Dragana Milosevic; Massimo Mannelli; W Marston Linehan; Karen Adams; Henri J Timmers; Karel Pacak
Journal:  Eur J Cancer       Date:  2011-10-28       Impact factor: 9.162

Review 3.  The composition of adrenal chromaffin granules: an assessment of controversial results.

Authors:  H Winkler
Journal:  Neuroscience       Date:  1976       Impact factor: 3.590

4.  Somatic HIF2A gain-of-function mutations in paraganglioma with polycythemia.

Authors:  Zhengping Zhuang; Chunzhang Yang; Felipe Lorenzo; Maria Merino; Tito Fojo; Electron Kebebew; Vera Popovic; Constantine A Stratakis; Josef T Prchal; Karel Pacak
Journal:  N Engl J Med       Date:  2012-09-06       Impact factor: 91.245

5.  Pheochromocytomas in von Hippel-Lindau syndrome and multiple endocrine neoplasia type 2 display distinct biochemical and clinical phenotypes.

Authors:  G Eisenhofer; M M Walther; T T Huynh; S T Li; S R Bornstein; A Vortmeyer; M Mannelli; D S Goldstein; W M Linehan; J W Lenders; K Pacak
Journal:  J Clin Endocrinol Metab       Date:  2001-05       Impact factor: 5.958

6.  Mitochondrial function and content in pheochromocytoma/paraganglioma of succinate dehydrogenase mutation carriers.

Authors:  E Rapizzi; T Ercolino; L Canu; V Giaché; M Francalanci; C Pratesi; A Valeri; M Mannelli
Journal:  Endocr Relat Cancer       Date:  2012-05-03       Impact factor: 5.678

7.  SDHD mutations in head and neck paragangliomas result in destabilization of complex II in the mitochondrial respiratory chain with loss of enzymatic activity and abnormal mitochondrial morphology.

Authors:  P B Douwes Dekker; P C W Hogendoorn; N Kuipers-Dijkshoorn; F A Prins; S G van Duinen; P E M Taschner; A G L van der Mey; C J Cornelisse
Journal:  J Pathol       Date:  2003-11       Impact factor: 7.996

8.  The R22X mutation of the SDHD gene in hereditary paraganglioma abolishes the enzymatic activity of complex II in the mitochondrial respiratory chain and activates the hypoxia pathway.

Authors:  A P Gimenez-Roqueplo; J Favier; P Rustin; J J Mourad; P F Plouin; P Corvol; A Rötig; X Jeunemaitre
Journal:  Am J Hum Genet       Date:  2001-10-16       Impact factor: 11.025

9.  Somatic NF1 inactivation is a frequent event in sporadic pheochromocytoma.

Authors:  Nelly Burnichon; Alexandre Buffet; Béatrice Parfait; Eric Letouzé; Ingrid Laurendeau; Céline Loriot; Eric Pasmant; Nasséra Abermil; Laurence Valeyrie-Allanore; Jérôme Bertherat; Laurence Amar; Dominique Vidaud; Judith Favier; Anne-Paule Gimenez-Roqueplo
Journal:  Hum Mol Genet       Date:  2012-09-06       Impact factor: 6.150

10.  Functional consequences of a SDHB gene mutation in an apparently sporadic pheochromocytoma.

Authors:  Anne-Paule Gimenez-Roqueplo; Judith Favier; Pierre Rustin; Claudine Rieubland; Véronique Kerlan; Pierre-François Plouin; Agnès Rötig; Xavier Jeunemaitre
Journal:  J Clin Endocrinol Metab       Date:  2002-10       Impact factor: 5.958

View more
  20 in total

Review 1.  Pheochromocytoma: The First Metabolic Endocrine Cancer.

Authors:  Ivana Jochmanova; Karel Pacak
Journal:  Clin Cancer Res       Date:  2016-10-15       Impact factor: 12.531

Review 2.  Current views on cell metabolism in SDHx-related pheochromocytoma and paraganglioma.

Authors:  Ales Vicha; David Taieb; Karel Pacak
Journal:  Endocr Relat Cancer       Date:  2014-05-08       Impact factor: 5.678

Review 3.  Current approaches and recent developments in the management of head and neck paragangliomas.

Authors:  David Taïeb; Alexandre Kaliski; Carsten C Boedeker; Victoria Martucci; Tito Fojo; John R Adler; Karel Pacak
Journal:  Endocr Rev       Date:  2014-07-17       Impact factor: 19.871

Review 4.  Pheochromocytoma and paraganglioma: diagnosis, genetics, management, and treatment.

Authors:  Victoria L Martucci; Karel Pacak
Journal:  Curr Probl Cancer       Date:  2014-01-15       Impact factor: 3.187

Review 5.  Precision medicine in pheochromocytoma and paraganglioma: current and future concepts.

Authors:  P Björklund; K Pacak; J Crona
Journal:  J Intern Med       Date:  2016-05-10       Impact factor: 8.989

6.  Genotype-specific differences in the tumor metabolite profile of pheochromocytoma and paraganglioma using untargeted and targeted metabolomics.

Authors:  J U Rao; U F H Engelke; F C G J Sweep; K Pacak; B Kusters; A G Goudswaard; A R M M Hermus; A R Mensenkamp; G Eisenhofer; N Qin; S Richter; H P M Kunst; H J L M Timmers; R A Wevers
Journal:  J Clin Endocrinol Metab       Date:  2014-12-02       Impact factor: 5.958

Review 7.  Pheochromocytoma: Gasping for Air.

Authors:  Ivana Jochmanová; Zhengping Zhuang; Karel Pacak
Journal:  Horm Cancer       Date:  2015-07-03       Impact factor: 3.869

8.  Krebs cycle metabolite profiling for identification and stratification of pheochromocytomas/paragangliomas due to succinate dehydrogenase deficiency.

Authors:  Susan Richter; Mirko Peitzsch; Elena Rapizzi; Jacques W Lenders; Nan Qin; Aguirre A de Cubas; Francesca Schiavi; Jyotsna U Rao; Felix Beuschlein; Marcus Quinkler; Henri J Timmers; Giuseppe Opocher; Massimo Mannelli; Karel Pacak; Mercedes Robledo; Graeme Eisenhofer
Journal:  J Clin Endocrinol Metab       Date:  2014-07-11       Impact factor: 5.958

9.  Application of (1)h NMR spectroscopy-based metabolomics to sera of tuberculosis patients.

Authors:  Aiping Zhou; Jinjing Ni; Zhihong Xu; Ying Wang; Shuihua Lu; Wei Sha; Petros C Karakousis; Yu-Feng Yao
Journal:  J Proteome Res       Date:  2013-09-10       Impact factor: 4.466

Review 10.  Radiogenomics: A systems biology approach to understanding genetic risk factors for radiotherapy toxicity?

Authors:  Carsten Herskind; Christopher J Talbot; Sarah L Kerns; Marlon R Veldwijk; Barry S Rosenstein; Catharine M L West
Journal:  Cancer Lett       Date:  2016-03-02       Impact factor: 8.679

View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.