Rescue of primary ubiquinone deficiency due to a novel COQ7 defect using 2,4–dihydroxybensoic acid
BackgroundCoenzyme Q is an essential mitochondrial electron carrier, redox cofactor and a potent antioxidant in the majority of cellular membranes. Coenzyme Q deficiency has been associated with a range of metabolic diseases, as well as with some drug treatments and ageing.MethodsWe used whole exome...
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Published in | Journal of medical genetics Vol. 52; no. 11; pp. 779 - 783 |
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Main Authors | , , , , , , , , , , , , , , , , , |
Format | Journal Article |
Language | English |
Published |
England
BMJ Publishing Group LTD
01.11.2015
BMJ Publishing Group |
Series | Short report |
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Abstract | BackgroundCoenzyme Q is an essential mitochondrial electron carrier, redox cofactor and a potent antioxidant in the majority of cellular membranes. Coenzyme Q deficiency has been associated with a range of metabolic diseases, as well as with some drug treatments and ageing.MethodsWe used whole exome sequencing (WES) to investigate patients with inherited metabolic diseases and applied a novel ultra-pressure liquid chromatography—mass spectrometry approach to measure coenzyme Q in patient samples.ResultsWe identified a homozygous missense mutation in the COQ7 gene in a patient with complex mitochondrial deficiency, resulting in severely reduced coenzyme Q levels We demonstrate that the coenzyme Q analogue 2,4-dihydroxybensoic acid (2,4DHB) was able to specifically bypass the COQ7 deficiency, increase cellular coenzyme Q levels and rescue the biochemical defect in patient fibroblasts.ConclusionWe report the first patient with primary coenzyme Q deficiency due to a homozygous COQ7 mutation and a potentially beneficial treatment using 2,4DHB. |
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AbstractList | BackgroundCoenzyme Q is an essential mitochondrial electron carrier, redox cofactor and a potent antioxidant in the majority of cellular membranes. Coenzyme Q deficiency has been associated with a range of metabolic diseases, as well as with some drug treatments and ageing.MethodsWe used whole exome sequencing (WES) to investigate patients with inherited metabolic diseases and applied a novel ultra-pressure liquid chromatography—mass spectrometry approach to measure coenzyme Q in patient samples.ResultsWe identified a homozygous missense mutation in the COQ7 gene in a patient with complex mitochondrial deficiency, resulting in severely reduced coenzyme Q levels We demonstrate that the coenzyme Q analogue 2,4-dihydroxybensoic acid (2,4DHB) was able to specifically bypass the COQ7 deficiency, increase cellular coenzyme Q levels and rescue the biochemical defect in patient fibroblasts.ConclusionWe report the first patient with primary coenzyme Q deficiency due to a homozygous COQ7 mutation and a potentially beneficial treatment using 2,4DHB. Background Coenzyme Q is an essential mitochondrial electron carrier, redox cofactor and a potent antioxidant in the majority of cellular membranes. Coenzyme Q deficiency has been associated with a range of metabolic diseases, as well as with some drug treatments and ageing. Methods We used whole exome sequencing (WES) to investigate patients with inherited metabolic diseases and applied a novel ultra-pressure liquid chromatography-mass spectrometry approach to measure coenzyme Q in patient samples. Results We identified a homozygous missense mutation in the COQ7 gene in a patient with complex mitochondrial deficiency, resulting in severely reduced coenzyme Q levels We demonstrate that the coenzyme Q analogue 2,4-dihydroxybensoic acid (2,4DHB) was able to specifically bypass the COQ7 deficiency, increase cellular coenzyme Q levels and rescue the biochemical defect in patient fibroblasts. Conclusion We report the first patient with primary coenzyme Q deficiency due to a homozygous COQ7 mutation and a potentially beneficial treatment using 2,4DHB. Coenzyme Q is an essential mitochondrial electron carrier, redox cofactor and a potent antioxidant in the majority of cellular membranes. Coenzyme Q deficiency has been associated with a range of metabolic diseases, as well as with some drug treatments and ageing. We used whole exome sequencing (WES) to investigate patients with inherited metabolic diseases and applied a novel ultra-pressure liquid chromatography-mass spectrometry approach to measure coenzyme Q in patient samples. We identified a homozygous missense mutation in the COQ7 gene in a patient with complex mitochondrial deficiency, resulting in severely reduced coenzyme Q levels We demonstrate that the coenzyme Q analogue 2,4-dihydroxybensoic acid (2,4DHB) was able to specifically bypass the COQ7 deficiency, increase cellular coenzyme Q levels and rescue the biochemical defect in patient fibroblasts. We report the first patient with primary coenzyme Q deficiency due to a homozygous COQ7 mutation and a potentially beneficial treatment using 2,4DHB. |
Author | Engvall, Martin Wredenberg, Anna Wedell, Anna Felser, Andrea von Döbeln, Ulrika Stranneheim, Henrik Andeer, Robin Maffezzini, Camilla Wibom, Rolf Bruhn, Helene Magnusson, Måns Lesko, Nicole Freyer, Christoph Barbaro, Michela Hinze, Yvonne Naess, Karin Mourier, Arnaud Zetterström, Rolf H |
AuthorAffiliation | 6 Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden 4 Department of Laboratory Medicine, Karolinska Institutet, Stockholm, Sweden 1 Centre for Inherited Metabolic Diseases, Karolinska University Hospital , Stockholm , Sweden 2 Max Planck Institute Biology of Ageing - Karolinska Institutet Laboratory, Division of Metabolic Diseases, Department of Laboratory Medicine, Karolinska Institutet , Stockholm , Sweden 5 Max Planck Institute for Biology of Ageing, Cologne, Germany 3 Department of Molecular Medicine and Surgery, Science for Life Laboratory, Karolinska Institutet , Stockholm , Sweden |
AuthorAffiliation_xml | – name: 1 Centre for Inherited Metabolic Diseases, Karolinska University Hospital , Stockholm , Sweden – name: 3 Department of Molecular Medicine and Surgery, Science for Life Laboratory, Karolinska Institutet , Stockholm , Sweden – name: 4 Department of Laboratory Medicine, Karolinska Institutet, Stockholm, Sweden – name: 5 Max Planck Institute for Biology of Ageing, Cologne, Germany – name: 6 Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden – name: 2 Max Planck Institute Biology of Ageing - Karolinska Institutet Laboratory, Division of Metabolic Diseases, Department of Laboratory Medicine, Karolinska Institutet , Stockholm , Sweden |
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Snippet | BackgroundCoenzyme Q is an essential mitochondrial electron carrier, redox cofactor and a potent antioxidant in the majority of cellular membranes. Coenzyme Q... Coenzyme Q is an essential mitochondrial electron carrier, redox cofactor and a potent antioxidant in the majority of cellular membranes. Coenzyme Q deficiency... Background Coenzyme Q is an essential mitochondrial electron carrier, redox cofactor and a potent antioxidant in the majority of cellular membranes. Coenzyme Q... BACKGROUNDCoenzyme Q is an essential mitochondrial electron carrier, redox cofactor and a potent antioxidant in the majority of cellular membranes. Coenzyme Q... |
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SubjectTerms | Age Amino Acid Sequence Ataxia - diagnosis Ataxia - drug therapy Ataxia - genetics Biopsy Biosynthesis Child Child, Preschool Chromatography, Liquid Creatinine Dehydrogenases DNA Mutational Analysis Enzymes Exome Fibroblasts Homozygote Humans Hydroxybenzoates - therapeutic use Hypertension Infant, Newborn Male Medicin och hälsovetenskap Mitochondria - genetics Mitochondria - metabolism Mitochondrial Diseases - diagnosis Mitochondrial Diseases - drug therapy Mitochondrial Diseases - genetics Molecular Sequence Data Muscle Weakness - diagnosis Muscle Weakness - drug therapy Muscle Weakness - genetics Musculoskeletal system Mutation Mutation, Missense Ostomy Plasma Respiration Sequence Alignment Tandem Mass Spectrometry Therapeutics Ubiquinone - deficiency Ubiquinone - genetics Ultrasonic imaging Yeast |
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Title | Rescue of primary ubiquinone deficiency due to a novel COQ7 defect using 2,4–dihydroxybensoic acid |
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