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214 results on '"complex I deficiency"'

201. 'Double-trouble' or digenic disorder in complex I deficiency

Author

Célia Nogueira, Teresinha Evangelista, Mariana Ferreira, Lígia S. Almeida, Laura Vilarinho, Fátima Furtado, and Filippo M. Santorelli

Subjects
Genetics, Complex i deficiency, business.industry, Molecular Medicine, Medicine, Cell Biology, business, Molecular Biology
Published
2012
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202. Inborn and induced defects of the mitochondrial respiratory chain

Author

JM Cooper and Anthony H.V. Schapira

Subjects
Genetics, business.industry, Brain Diseases, Metabolic, medicine.disease, Biochemistry, DNA, Mitochondrial, Mitochondria, Kearns–Sayre syndrome, chemistry.chemical_compound, Mitochondrial respiratory chain, Oxygen Consumption, chemistry, Complex i deficiency, Mitochondrial Encephalomyopathies, Mutation (genetic algorithm), Mutation, medicine, Myoclonic epilepsy, Animals, Humans, Point Mutation, business, DNA, Metabolism, Inborn Errors, Sequence Deletion
Published
1994

203. Riboflavin-responsive complex I deficiency

Author

Scholte, H.R. (Hans), Busch, H.F.M. (Herman), Bakker, H.D. (Henk), Bogaard, J.M. (Jan), Luyt-Houwen, I.E.M. (I. E M), Kuyt, L.P. (L.), Scholte, H.R. (Hans), Busch, H.F.M. (Herman), Bakker, H.D. (Henk), Bogaard, J.M. (Jan), Luyt-Houwen, I.E.M. (I. E M), and Kuyt, L.P. (L.)

Abstract

Three patients from a large consanguineous family, and one unrelated patient had exercise intolerance since early childhood and improved by supplementation with a high dosage of riboflavin. This was confirmed by higher endurance power in exercise testing. Riboflavin had been given because complex I, which contains riboflavin in FMN, one of its prosthetic groups, had a very low activity in muscle. Histochemistry showed an increase of subsarcolemmal mitochondria. The low complex I activity contrasted with an increase of the activities of succinate dehydrogenase, succinate-cytochrome c oxidoreductase and cytochrome c oxidase. Isolated mitochondria from these muscle specimens proved deficient in oxidizing pyruvate plus malate and other NAD+-linked substrates, but oxidized succinate and ascorbate at equal or higher levels than controls. Two years later a second biopsy was taken in one of the patients, and the activity of complex I had increased from 16% to 47% of the average activity in controls. In the four biopsies, cytochrome c oxidase activity correlated negatively with age. We suspect that this is due to reactive oxygen species generated by the proliferating mitochondria and peroxidizing unsaturated fatty acids of cardiolipin. Three of the four patients had low blood carnitine, and all were found to have hypocarnitinemic family members.

Published
1995
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205. G.P.3.03 Recurrent mutations in the NDUFS2 gene causing isolated complex I deficiency in skeletal muscle

Author

Robert McFarland, Emma L. Blakely, Helen A. L. Tuppen, Michael Clarke, Robert W. Taylor, A.M. Devlin, Langping He, Simon Jones, and A. A. M. Morris

Subjects
Gerontology, medicine.medical_specialty, NDUFS2, Skeletal muscle, Biology, Endocrinology, medicine.anatomical_structure, Neurology, Complex i deficiency, Internal medicine, Pediatrics, Perinatology and Child Health, medicine, Neurology (clinical), Gene, Genetics (clinical)
Published
2009
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206. Complex I Deficiency in Parkinson’s Disease and MPTP-Induced Experimental Parkinsonism

Author

Yoshikuni Mizuno and Keiji Suzuki

Subjects
Parkinson's disease, Mechanism (biology), business.industry, MPTP, Parkinsonism, Disease, medicine.disease, nervous system diseases, Pathogenesis, chemistry.chemical_compound, nervous system, chemistry, Complex i deficiency, medicine, Neuronal degeneration, business, Neuroscience
Abstract

It has been considered that 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine(MPTP)-induced parkinsonism is the best model available at present of Parkinson’s disease. Elucidation of the mechanism of the neuronal degeneration in this model will contribute to the studies on the pathogenesis of Parkinson’s disease. In this communication, we will present our data on the mechanism of the neuronal degeneration in MPTP-induced experimental parkinsonism and a preliminary observation on Parkinson’s disease.

Published
1990
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208. MLP027 Serial magnetic resonance imaging and spectroscopy in mitochondrial encephalopathy due to complex I deficiency and NDUFV1 gene mutations

Author

L.P.W.J. van den Heuvel, Hans Scheffer, M.S. van der Knaap, F. Athanasiadou-Piperopoulou, R.J.T. Rodenburg, and Dimitrios I. Zafeiriou

Subjects
Pathology, medicine.medical_specialty, Serial magnetic resonance imaging, Nuclear magnetic resonance, Complex i deficiency, Chemistry, NDUFV1 Gene, Pediatrics, Perinatology and Child Health, medicine, Mitochondrial encephalopathy, Neurology (clinical), General Medicine, Spectroscopy
Published
2007
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209. 161 Fatal Hypertensive Crisis As Presentation Of Complex I Deficiency

Author

A Heusch, A Klusmann, Ertan Mayatepek, R.J.T. Rodenburg, Thomas Hoehn, K Lohmeier, and L.P.W.J. van den Heuvel

Subjects
medicine.medical_specialty, Pediatrics, business.industry, Complex i deficiency, Pediatrics, Perinatology and Child Health, medicine, Nystagmus, Sibling, medicine.symptom, Presentation (obstetrics), Psychiatry, business, Hypertensive crisis
Abstract

Background: In a family with three male siblings two died at the age of two and three years, respectively. Both affected brothers had deficits of their motor functions and coordination as well as nystagmus. Their now five year-old male sibling is clinically unaffected.

Published
2004
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210. Neonatal multiorgan failure due to ACAD9 mutation and complex I deficiency with mitochondrial hyperplasia in liver, cardiac myocytes, skeletal muscle, and renal tubules.

Author

Leslie N, Wang X, Peng Y, Valencia CA, Khuchua Z, Hata J, Witte D, Huang T, and Bove KE

Subjects
Acidosis enzymology, Acidosis genetics, Acidosis pathology, Acidosis, Lactic enzymology, Acidosis, Lactic genetics, Acidosis, Lactic pathology, Acyl-CoA Dehydrogenase genetics, Acyl-CoA Dehydrogenases deficiency, Amino Acid Metabolism, Inborn Errors enzymology, Amino Acid Metabolism, Inborn Errors genetics, Amino Acid Metabolism, Inborn Errors pathology, Autopsy, Cardiomyopathy, Hypertrophic enzymology, Cardiomyopathy, Hypertrophic genetics, Cardiomyopathy, Hypertrophic pathology, Cause of Death, Cells, Cultured, DNA Mutational Analysis, DNA, Mitochondrial genetics, Diaphragm enzymology, Electron Transport Complex I genetics, Fatal Outcome, Fibroblasts enzymology, Fibroblasts pathology, Genetic Predisposition to Disease, Humans, Hyperplasia, Immunohistochemistry, Infant, Newborn, Kidney Tubules enzymology, Leigh Disease enzymology, Leigh Disease genetics, Leigh Disease pathology, Male, Mitochondria, Heart enzymology, Mitochondria, Liver enzymology, Mitochondria, Muscle enzymology, Mitochondrial Diseases enzymology, Mitochondrial Diseases genetics, Mitochondrial Diseases pathology, Multiple Organ Failure enzymology, Multiple Organ Failure genetics, Multiple Organ Failure pathology, Muscle Weakness enzymology, Muscle Weakness genetics, Muscle Weakness pathology, Phenotype, Transfection, Acidosis diagnosis, Acidosis, Lactic diagnosis, Acyl-CoA Dehydrogenase deficiency, Acyl-CoA Dehydrogenases genetics, Amino Acid Metabolism, Inborn Errors diagnosis, Cardiomyopathy, Hypertrophic diagnosis, Codon, Nonsense, Diaphragm pathology, Electron Transport Complex I deficiency, Kidney Tubules pathology, Leigh Disease diagnosis, Mitochondria, Heart pathology, Mitochondria, Liver pathology, Mitochondria, Muscle pathology, Mitochondrial Diseases diagnosis, Multiple Organ Failure diagnosis, Muscle Weakness diagnosis
Abstract

Complex I deficiency causes Leigh syndrome, fatal infant lactic acidosis, and neonatal cardiomyopathy. Mutations in more than 100 nuclear DNA and mitochondrial DNA genes miscode for complex I subunits or assembly factors. ACAD9 is an acyl-CoA dehydrogenase with a novel function in assembly of complex I; biallelic mutations cause progressive encephalomyopathy, recurrent Reye syndrome, and fatal cardiomyopathy. We describe the first autopsy in fatal neonatal lethal lactic acidosis due to mutations in ACAD9 that reduced complex I activity. We identified mitochondrial hyperplasia in cardiac myocytes, diaphragm muscle, and liver and renal tubules in formalin-fixed, paraffin-embedded tissue using immunohistochemistry for mitochondrial antigens. Whole-exome sequencing revealed compound heterozygous variants in the ACAD9 gene: c.187G>T (p.E63*) and c.941T>C (p.L314P). The nonsense mutation causes late infantile lethality; the missense variant is novel. Autopsy-derived fibroblasts had reduced complex I activity (53% of control) with normal activity in complexes II to IV, similar to reported cases of ACAD9 deficiency., (Copyright © 2015 Elsevier Inc. All rights reserved.)

Published
2016
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211. Long Survival in Patients With Leigh Syndrome and the m.10191T>C Mutation in MT-ND3: A Case Report and Review of the Literature.

Author

Levy, Rebecca J., Ríos, Purificación Gutierrez, Akman, Hasan O., Sciacco, Monica, Vivo, Darryl C. De, and DiMauro, Salvatore

Subjects
*LEIGH disease, *SYMPTOMS, *MITOCHONDRIA, *CYTOPLASMIC inheritance, *ADULTS
Abstract

We report an unusual case of Leigh syndrome due to the m.10191T>C mutation in the complex I gene MT-ND3. This mutation has been associated with a spectrum of clinical phenotypes ranging from infant lethality to adult onset. Despite infantile onset and severe symptoms, our patient has survived to early adulthood because of a strict dietary regimen and parental care. This patient is an extreme example of the frequently prolonged course of Leigh syndrome due to this particular mutation. [ABSTRACT FROM AUTHOR]

Published
2014
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212. FAT IMPROVES MITOCHONDRIAL PERFORMANCE IN A RESPIRATORY CHAIN DISORDER(COMPLEX I DEFICIENCY). † 848

Author

T. J. de Koning, Rudolphus Berger, B. T. Poll-The, K. de Meer, and Jeroen A. L. Jeneson

Subjects
medicine.medical_specialty, Triglyceride, Respiratory chain, Skeletal muscle, chemistry.chemical_element, Oxidative phosphorylation, Oxygen, Phosphocreatine, chemistry.chemical_compound, medicine.anatomical_structure, Endocrinology, chemistry, Complex i deficiency, Internal medicine, Pediatrics, Perinatology and Child Health, medicine, Power output
Abstract

In Complex I deficiency (CID), a disorder characterized by impaired mitochondrial ability to oxidize NADH, fat as compared to glucose oxidation may be beneficial by supplying more non-NADH vs. NADH electron flow to the respiratory chain. We studied the effects of intravenous infusion of triglyceride vs. glucose (1.8\3.6 vs. 5\10 mg/kg/min) in a patient with primary CID at rest\during exercise. In forearm muscle, 31P nuclear magnetic resonance spectroscopy during steady-state submaximal exercise (by bulb squeezing) showed improved mitochondrial performance (i.e. lower inorganic phosphate/phosphocreatine ratios (mean ±SD: 0.40 ±0.14 vs. 0.71 ±0.06, P = 0.001)), and 1.5 times higher maximal power output, during fat vs. glucose infusion. Likewise, oxygen consumption during stationary bicycling at 7 W was significantly higher (368 ±26 vs. 326±23 ml/min, P < 0.001), and endurance was 1.5 times longer during fat vs. glucose infusion. Indirect calorimetry at rest\during cycling showed that 14\29% more energy was provided for oxidation during fat vs. glucose infusion (P < 0.005). We conclude that in CID, fat as compared to glucose improves mitochondrial performance of oxidative phosphorylation during exercise by skeletal muscle. The findings support the preferential use of fat for dietary management of CID patients.

Published
1996
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213. Clinical and molecular heterogeneity in patients with mitochondrial encephalomyopathies due to complex I deficiency

Author

Masanori Kobayashi, Takayuki Ozawa, Masashi Tanaka, T. Ichiki, and Yoshiro Wada

Subjects
medicine.medical_specialty, Immunochemistry, Blotting, Western, Brain, Mitochondrion, Biology, Bioinformatics, Molecular heterogeneity, Human genetics, Mitochondria, Muscle, Endocrinology, Complex i deficiency, Internal medicine, NAD(P)H Dehydrogenase (Quinone), Genetics, medicine, Humans, In patient, Quinone Reductases, medicine.symptom, NADH dehydrogenase (ubiquinone), Myopathy, Genetics (clinical), Mitochondrial Encephalomyopathies
Published
1988
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214. Mitochondrial Myopathy due to Complex I Deficiency

Author

Hans R. Scholte, H.F.M. Busch, and I. E. M. Luyt-Houwen

Subjects
medicine.medical_specialty, Endocrinology, History and Philosophy of Science, Mitochondrial myopathy, business.industry, Complex i deficiency, General Neuroscience, Internal medicine, Medicine, Biology, business, medicine.disease, General Biochemistry, Genetics and Molecular Biology
Published
1986
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