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Deficiency in SLC25A1, encoding the mitochondrial citrate carrier, causes combined D-2- and L-2-hydroxyglutaric aciduria

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Deficiency in SLC25A1, encoding the mitochondrial citrate carrier, causes combined D-2- and L-2-hydroxyglutaric aciduria. / Nota, Benjamin; Struys, Eduard A; Pop, Ana; Jansen, Erwin E; Fernandez Ojeda, Matilde R; Kanhai, Warsha A; Kranendijk, Martijn; van Dooren, Silvy J M; Bevova, Marianna R; Sistermans, Erik A; Nieuwint, Aggie W M; Barth, Magalie; Ben-Omran, Tawfeg; Hoffmann, Georg F; de Lonlay, Pascale; McDonald, Marie T; Meberg, Alf; Muntau, Ania; Nuoffer, Jean-Marc; Parini, Rossella; Read, Marie-Hélène; Renneberg, Axel; Santer, René; Strahleck, Thomas; van Schaftingen, Emile; van der Knaap, Marjo S; Jakobs, Cornelis; Salomons, Gajja S.

In: AM J HUM GENET, Vol. 92, No. 4, 04.04.2013, p. 627-31.

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

Harvard

Nota, B, Struys, EA, Pop, A, Jansen, EE, Fernandez Ojeda, MR, Kanhai, WA, Kranendijk, M, van Dooren, SJM, Bevova, MR, Sistermans, EA, Nieuwint, AWM, Barth, M, Ben-Omran, T, Hoffmann, GF, de Lonlay, P, McDonald, MT, Meberg, A, Muntau, A, Nuoffer, J-M, Parini, R, Read, M-H, Renneberg, A, Santer, R, Strahleck, T, van Schaftingen, E, van der Knaap, MS, Jakobs, C & Salomons, GS 2013, 'Deficiency in SLC25A1, encoding the mitochondrial citrate carrier, causes combined D-2- and L-2-hydroxyglutaric aciduria', AM J HUM GENET, vol. 92, no. 4, pp. 627-31. https://doi.org/10.1016/j.ajhg.2013.03.009

APA

Nota, B., Struys, E. A., Pop, A., Jansen, E. E., Fernandez Ojeda, M. R., Kanhai, W. A., Kranendijk, M., van Dooren, S. J. M., Bevova, M. R., Sistermans, E. A., Nieuwint, A. W. M., Barth, M., Ben-Omran, T., Hoffmann, G. F., de Lonlay, P., McDonald, M. T., Meberg, A., Muntau, A., Nuoffer, J-M., ... Salomons, G. S. (2013). Deficiency in SLC25A1, encoding the mitochondrial citrate carrier, causes combined D-2- and L-2-hydroxyglutaric aciduria. AM J HUM GENET, 92(4), 627-31. https://doi.org/10.1016/j.ajhg.2013.03.009

Vancouver

Nota B, Struys EA, Pop A, Jansen EE, Fernandez Ojeda MR, Kanhai WA et al. Deficiency in SLC25A1, encoding the mitochondrial citrate carrier, causes combined D-2- and L-2-hydroxyglutaric aciduria. AM J HUM GENET. 2013 Apr 4;92(4):627-31. https://doi.org/10.1016/j.ajhg.2013.03.009

Bibtex

@article{0cac5a281ca643ac8c56bdc2425c04fc,
title = "Deficiency in SLC25A1, encoding the mitochondrial citrate carrier, causes combined D-2- and L-2-hydroxyglutaric aciduria",
abstract = "The Krebs cycle is of fundamental importance for the generation of the energetic and molecular needs of both prokaryotic and eukaryotic cells. Both enantiomers of metabolite 2-hydroxyglutarate are directly linked to this pivotal biochemical pathway and are found elevated not only in several cancers, but also in different variants of the neurometabolic disease 2-hydroxyglutaric aciduria. Recently we showed that cancer-associated IDH2 germline mutations cause one variant of 2-hydroxyglutaric aciduria. Complementary to these findings, we now report recessive mutations in SLC25A1, the mitochondrial citrate carrier, in 12 out of 12 individuals with combined D-2- and L-2-hydroxyglutaric aciduria. Impaired mitochondrial citrate efflux, demonstrated by stable isotope labeling experiments and the absence of SLC25A1 in fibroblasts harboring certain mutations, suggest that SLC25A1 deficiency is pathogenic. Our results identify defects in SLC25A1 as a cause of combined D-2- and L-2-hydroxyglutaric aciduria.",
keywords = "Amino Acid Sequence, Anion Transport Proteins, Biological Markers, Brain Diseases, Metabolic, Inborn, Case-Control Studies, Cells, Cultured, Chromatography, Liquid, Citric Acid, Exome, Female, Fibroblasts, Genes, Recessive, Glutarates, Humans, Male, Mitochondria, Mitochondrial Proteins, Molecular Sequence Data, Mutation, Phenotype, Protein Structure, Tertiary, Retrospective Studies, Sequence Homology, Amino Acid, Stereoisomerism, Tandem Mass Spectrometry",
author = "Benjamin Nota and Struys, {Eduard A} and Ana Pop and Jansen, {Erwin E} and {Fernandez Ojeda}, {Matilde R} and Kanhai, {Warsha A} and Martijn Kranendijk and {van Dooren}, {Silvy J M} and Bevova, {Marianna R} and Sistermans, {Erik A} and Nieuwint, {Aggie W M} and Magalie Barth and Tawfeg Ben-Omran and Hoffmann, {Georg F} and {de Lonlay}, Pascale and McDonald, {Marie T} and Alf Meberg and Ania Muntau and Jean-Marc Nuoffer and Rossella Parini and Marie-H{\'e}l{\`e}ne Read and Axel Renneberg and Ren{\'e} Santer and Thomas Strahleck and {van Schaftingen}, Emile and {van der Knaap}, {Marjo S} and Cornelis Jakobs and Salomons, {Gajja S}",
note = "Copyright {\textcopyright} 2013 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.",
year = "2013",
month = apr,
day = "4",
doi = "10.1016/j.ajhg.2013.03.009",
language = "English",
volume = "92",
pages = "627--31",
journal = "AM J HUM GENET",
issn = "0002-9297",
publisher = "Cell Press",
number = "4",

}

RIS

TY - JOUR

T1 - Deficiency in SLC25A1, encoding the mitochondrial citrate carrier, causes combined D-2- and L-2-hydroxyglutaric aciduria

AU - Nota, Benjamin

AU - Struys, Eduard A

AU - Pop, Ana

AU - Jansen, Erwin E

AU - Fernandez Ojeda, Matilde R

AU - Kanhai, Warsha A

AU - Kranendijk, Martijn

AU - van Dooren, Silvy J M

AU - Bevova, Marianna R

AU - Sistermans, Erik A

AU - Nieuwint, Aggie W M

AU - Barth, Magalie

AU - Ben-Omran, Tawfeg

AU - Hoffmann, Georg F

AU - de Lonlay, Pascale

AU - McDonald, Marie T

AU - Meberg, Alf

AU - Muntau, Ania

AU - Nuoffer, Jean-Marc

AU - Parini, Rossella

AU - Read, Marie-Hélène

AU - Renneberg, Axel

AU - Santer, René

AU - Strahleck, Thomas

AU - van Schaftingen, Emile

AU - van der Knaap, Marjo S

AU - Jakobs, Cornelis

AU - Salomons, Gajja S

N1 - Copyright © 2013 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.

PY - 2013/4/4

Y1 - 2013/4/4

N2 - The Krebs cycle is of fundamental importance for the generation of the energetic and molecular needs of both prokaryotic and eukaryotic cells. Both enantiomers of metabolite 2-hydroxyglutarate are directly linked to this pivotal biochemical pathway and are found elevated not only in several cancers, but also in different variants of the neurometabolic disease 2-hydroxyglutaric aciduria. Recently we showed that cancer-associated IDH2 germline mutations cause one variant of 2-hydroxyglutaric aciduria. Complementary to these findings, we now report recessive mutations in SLC25A1, the mitochondrial citrate carrier, in 12 out of 12 individuals with combined D-2- and L-2-hydroxyglutaric aciduria. Impaired mitochondrial citrate efflux, demonstrated by stable isotope labeling experiments and the absence of SLC25A1 in fibroblasts harboring certain mutations, suggest that SLC25A1 deficiency is pathogenic. Our results identify defects in SLC25A1 as a cause of combined D-2- and L-2-hydroxyglutaric aciduria.

AB - The Krebs cycle is of fundamental importance for the generation of the energetic and molecular needs of both prokaryotic and eukaryotic cells. Both enantiomers of metabolite 2-hydroxyglutarate are directly linked to this pivotal biochemical pathway and are found elevated not only in several cancers, but also in different variants of the neurometabolic disease 2-hydroxyglutaric aciduria. Recently we showed that cancer-associated IDH2 germline mutations cause one variant of 2-hydroxyglutaric aciduria. Complementary to these findings, we now report recessive mutations in SLC25A1, the mitochondrial citrate carrier, in 12 out of 12 individuals with combined D-2- and L-2-hydroxyglutaric aciduria. Impaired mitochondrial citrate efflux, demonstrated by stable isotope labeling experiments and the absence of SLC25A1 in fibroblasts harboring certain mutations, suggest that SLC25A1 deficiency is pathogenic. Our results identify defects in SLC25A1 as a cause of combined D-2- and L-2-hydroxyglutaric aciduria.

KW - Amino Acid Sequence

KW - Anion Transport Proteins

KW - Biological Markers

KW - Brain Diseases, Metabolic, Inborn

KW - Case-Control Studies

KW - Cells, Cultured

KW - Chromatography, Liquid

KW - Citric Acid

KW - Exome

KW - Female

KW - Fibroblasts

KW - Genes, Recessive

KW - Glutarates

KW - Humans

KW - Male

KW - Mitochondria

KW - Mitochondrial Proteins

KW - Molecular Sequence Data

KW - Mutation

KW - Phenotype

KW - Protein Structure, Tertiary

KW - Retrospective Studies

KW - Sequence Homology, Amino Acid

KW - Stereoisomerism

KW - Tandem Mass Spectrometry

U2 - 10.1016/j.ajhg.2013.03.009

DO - 10.1016/j.ajhg.2013.03.009

M3 - SCORING: Journal article

C2 - 23561848

VL - 92

SP - 627

EP - 631

JO - AM J HUM GENET

JF - AM J HUM GENET

SN - 0002-9297

IS - 4

ER -