Literature DB >> 16435184

Kinetic characterization of human hydroxyacid-oxoacid transhydrogenase: relevance to D-2-hydroxyglutaric and gamma-hydroxybutyric acidurias.

E A Struys1, N M Verhoeven, H J Ten Brink, W V Wickenhagen, K M Gibson, C Jakobs.   

Abstract

We investigated the presence of hydroxyacid-oxoacid transhydrogenase (HOT), which catalyses the cofactor-independent conversion of gamma-hydroxybutyrate (GHB) to succinic semialdehyde coupled to reduction of 2-ketoglutarate (2-KG) to D-2-hydroxyglutarate (D-2-HG), in human liver extracts employing [2H6]GHB and 2-KG as substrates. We measured incorporation of 2H in D-[2H]2-HG using GC-MS analyses, providing evidence for HOT activity in humans. Kinetic characterization of HOT was undertaken in forward and reverse directions. We employed [2H6]GHB and [2H4]2-KG as cosubstrates in order to develop a HOT activity assay in cultured human fibroblasts derived from patients with D-2-hydroxyglutaric aciduria. HOT activity was quantified in this system by the measurement of D-[2H5]2-HG production. Fibroblasts derived from patients with D-2-hydroxyglutaric aciduria showed normal HOT activities. Our results provide the first demonstration and preliminary kinetic characterization of HOT activity in human tissues.

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Year:  2005        PMID： 16435184     DOI： 10.1007/s10545-005-0114-x

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


  12 in total

1.  D-2-hydroxyglutaric aciduria: further clinical delineation.

Authors:  M S van der Knaap; C Jakobs; G F Hoffmann; M Duran; A C Muntau; S Schweitzer; R I Kelley; F Parrot-Roulaud; J Amiel; P De Lonlay; D Rabier; O Eeg-Olofsson
Journal:  J Inherit Metab Dis       Date:  1999-06       Impact factor: 4.982

2.  D-2-hydroxyglutaric aciduria in a newborn with neurological abnormalities: a new neurometabolic disorder?

Authors:  K M Gibson; W Craigen; G E Herman; C Jakobs
Journal:  J Inherit Metab Dis       Date:  1993       Impact factor: 4.982

3.  Mutations in the D-2-hydroxyglutarate dehydrogenase gene cause D-2-hydroxyglutaric aciduria.

Authors:  Eduard A Struys; Gajja S Salomons; Younes Achouri; Emile Van Schaftingen; Salvatore Grosso; William J Craigen; Nanda M Verhoeven; Cornelis Jakobs
Journal:  Am J Hum Genet       Date:  2004-12-17       Impact factor: 11.025

4.  Direct nonisotopic assay of 3-methylglutaconyl-CoA hydratase in cultured human skin fibroblasts to specifically identify patients with 3-methylglutaconic aciduria type I.

Authors:  Ference J Loupatty; Jos P N Ruiter; Lodewijk IJlst; Marinus Duran; Ronald J A Wanders
Journal:  Clin Chem       Date:  2004-06-10       Impact factor: 8.327

5.  Gamma-aminobutyric acid-transaminase deficiency: a newly recognized inborn error of neurotransmitter metabolism.

Authors:  J Jaeken; P Casaer; P de Cock; L Corbeel; R Eeckels; E Eggermont; P J Schechter; J M Brucher
Journal:  Neuropediatrics       Date:  1984-08       Impact factor: 1.947

6.  Oxidation of gamma-hydroxybutyrate to succinic semialdehyde by a mitochondrial pyridine nucleotide-independent enzyme.

Authors:  E E Kaufman; T Nelson; D Miller; N Stadlan
Journal:  J Neurochem       Date:  1988-10       Impact factor: 5.372

7.  Developmental time courses in the brain and kidney of two enzymes that oxidize gamma-hydroxybutyrate.

Authors:  T Nelson; E E Kaufman
Journal:  Dev Neurosci       Date:  1994       Impact factor: 2.984

8.  Disease-related metabolites in culture medium of fibroblasts from patients with D-2-hydroxyglutaric aciduria, L-2-hydroxyglutaric aciduria, and combined D/L-2-hydroxyglutaric aciduria.

Authors:  Eduard A Struys; Nanda M Verhoeven; Birthe Roos; Cornelis Jakobs
Journal:  Clin Chem       Date:  2003-07       Impact factor: 8.327

9.  D-2-hydroxyglutaric aciduria in neonate with seizures and CNS dysfunction.

Authors:  W J Craigen; C Jakobs; E A Sekul; M L Levy; K M Gibson; I J Butler; G E Herman
Journal:  Pediatr Neurol       Date:  1994-02       Impact factor: 3.372

10.  Stable-isotope dilution analysis of D- and L-2-hydroxyglutaric acid: application to the detection and prenatal diagnosis of D- and L-2-hydroxyglutaric acidemias.

Authors:  K M Gibson; H J ten Brink; D S Schor; R M Kok; A H Bootsma; G F Hoffmann; C Jakobs
Journal:  Pediatr Res       Date:  1993-09       Impact factor: 3.756
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  33 in total

1.  Mitochondrial Citrate Transporter-dependent Metabolic Signature in the 22q11.2 Deletion Syndrome.

Authors:  Eleonora Napoli; Flora Tassone; Sarah Wong; Kathleen Angkustsiri; Tony J Simon; Gyu Song; Cecilia Giulivi
Journal:  J Biol Chem       Date:  2015-07-28       Impact factor: 5.157

Review 2.  Metabolite proofreading, a neglected aspect of intermediary metabolism.

Authors:  Emile Van Schaftingen; Rim Rzem; Alexandre Marbaix; François Collard; Maria Veiga-da-Cunha; Carole L Linster
Journal:  J Inherit Metab Dis       Date:  2013-01-08       Impact factor: 4.982

3.  Quantification of D- and L-2-Hydroxyglutarate in Drosophila melanogaster Tissue Samples Using Gas Chromatography-Mass Spectrometry.

Authors:  Hongde Li; Jason M Tennessen
Journal:  Methods Mol Biol       Date:  2019

4.  ADHFE1 is a breast cancer oncogene and induces metabolic reprogramming.

Authors:  Prachi Mishra; Wei Tang; Vasanta Putluri; Tiffany H Dorsey; Feng Jin; Fang Wang; Donewei Zhu; Lauren Amable; Tao Deng; Shaofei Zhang; J Keith Killian; Yonghong Wang; Tsion Z Minas; Harry G Yfantis; Dong H Lee; Arun Sreekumar; Michael Bustin; Wei Liu; Nagireddy Putluri; Stefan Ambs
Journal:  J Clin Invest       Date:  2017-11-27       Impact factor: 14.808

5.  MYC Regulation of D2HGDH and L2HGDH Influences the Epigenome and Epitranscriptome.

Authors:  ZhiJun Qiu; An-Ping Lin; Shoulei Jiang; Sara M Elkashef; Jamie Myers; Subramanya Srikantan; Binu Sasi; John Z Cao; Lucy A Godley; Dinesh Rakheja; Yingli Lyu; Siyuan Zheng; Muniswamy Madesh; Yuzuru Shiio; Patricia L M Dahia; Ricardo C T Aguiar
Journal:  Cell Chem Biol       Date:  2020-02-25       Impact factor: 8.116

Review 6.  D-2-Hydroxyglutaric aciduria: unravelling the biochemical pathway and the genetic defect.

Authors:  Eduard A Struys
Journal:  J Inherit Metab Dis       Date:  2006-02       Impact factor: 4.982

7.  Drosophila larvae synthesize the putative oncometabolite L-2-hydroxyglutarate during normal developmental growth.

Authors:  Hongde Li; Geetanjali Chawla; Alexander J Hurlburt; Maria C Sterrett; Olga Zaslaver; James Cox; Jonathan A Karty; Adam P Rosebrock; Amy A Caudy; Jason M Tennessen
Journal:  Proc Natl Acad Sci U S A       Date:  2017-01-23       Impact factor: 11.205

8.  Therapeutic concepts in succinate semialdehyde dehydrogenase (SSADH; ALDH5a1) deficiency (gamma-hydroxybutyric aciduria). Hypotheses evolved from 25 years of patient evaluation, studies in Aldh5a1-/- mice and characterization of gamma-hydroxybutyric acid pharmacology.

Authors:  I Knerr; P L Pearl; T Bottiglieri; O Carter Snead; C Jakobs; K M Gibson
Journal:  J Inherit Metab Dis       Date:  2007-04-24       Impact factor: 4.982

9.  The oncometabolite L-2-hydroxyglutarate is a common product of dipteran larval development.

Authors:  Nader H Mahmoudzadeh; Alexander J Fitt; Daniel B Schwab; William E Martenis; Lauren M Nease; Charity G Owings; Garrett J Brinkley; Hongde Li; Jonathan A Karty; Sunil Sudarshan; Richard W Hardy; Armin P Moczek; Christine J Picard; Jason M Tennessen
Journal:  Insect Biochem Mol Biol       Date:  2020-11-03       Impact factor: 4.714

Review 10.  2-Hydoxyglutarate: D/Riving Pathology in gLiomaS.

Authors:  Daniel R Wahl; Sriram Venneti
Journal:  Brain Pathol       Date:  2015-11       Impact factor: 6.508
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