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- The OMMBID Blog » archive for 'Part 10: DISORDERS OF MITOCHONDRIAL FUNCTION'
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Succinate dehydrogenase and leukoencephalopathy
- July 27th, 2009
A gene encoding a protein essential for the assembly of succinate dehydrogenase has been implicated in an infantile leukoencephalopathy.
Nat Genet. 2009 May 24. [Epub ahead of print]
Ghezzi D et al.
Click this link to see the most recent online abstracts of major genetics journals.
Philippe Campeau
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Mitochondrial carrier and sideroblastic anemia
- July 27th, 2009
Nat Genet. 2009 Jun;41(6):651-3. Epub 2009 May 3.
Guernsey DL et al.
These investigators form Nova Scotia describe a new form of sideroblastic anemia caused by a mutation in a mitochondrial carrier. The gene was identified by positional cloning.
Click this link to see the most recent online abstracts of major genetics journals.
Philippe Campeau
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New cause of CoQ10 deficiency
- July 27th, 2009
Am J Hum Genet. 2009 May;84(5):558-66. Epub 2009 Apr 16.
A nonsense mutation in COQ9 causes autosomal-recessive neonatal-onset primary coenzyme Q10 deficiency: a potentially treatable form of mitochondrial disease.Duncan AJ et al.
This group from the UK describes a new form of coQ10 deficiency, a potentially treatable condition.
Click this link to see the most recent online abstracts of major genetics journals.
Philippe Campeau
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New Krebs cycle defect
- October 6th, 2008
Nat Genet. 2008 Oct;40(10):1230-4. Epub 2008 Sep 21.
Insights from retinitis pigmentosa into the roles of isocitrate dehydrogenases in the Krebs cycle.
Hartong DT, Dange M, McGee TL, Berson EL, Dryja TP, Colman RF.
We still have things to learn about the Krebs cycle….
Indeed, by studying families with Retinitis Pigmentosa, Hartong and colleagues identified individuals with functional defects in NAD-specific isocitrate dehydrogenase.
What is surprinsing is that these individuals do not have a generalized mitochondrial syndrome with encephalopathy (seen in homozygotes with defects of other enzymes of the krebs cycle) but the only affected organ is the retina. It is believed that elsewhere in the body, NADP-specific isocitrate dehydrogenase catalyzes the oxidation of isocitrate to alpha-ketoglutarate.Thank you very much in advance for your contributions to this blog (Click on login to register and post a comment).
Click this link to see the most recent online abstracts of major genetics journals.
Philippe Campeau, MD
Resident in Medical Genetics at McGill University
OMMBID Blog Administrator -
Another gene involved in ubiquinone deficiency
- April 10th, 2008
Am J Hum Genet. 2008 Mar;82(3):623-30.
CABC1 gene mutations cause ubiquinone deficiency with cerebellar ataxia and
seizures.Mollet J, Delahodde A, Serre V, Chretien D, Schlemmer D, Lombes A, Boddaert N,
Desguerre I, de Lonlay P, de Baulny HO, Munnich A, Rötig A.Investigators rom Paris have studied patients with CoQ10 deficiency from three families (presenting mostly with myopathy and ataxia), and systematically sequenced genes in the ubiquinone biosynthesis pathway. Mutations were found in CABC1, and the mutations were proven to be pathogenic in a yeast model. The role of the protein encoded by this gene is not precisely known yet.
Thank you very much in advance for your contributions to this blog (Click on login to register and post a comment).
Click this link to see the most recent online abstracts of major genetics journals.
Philippe Campeau, MD
Resident in Medical Genetics at McGill University
OMMBID Blog Administrator -
Reversion of white matter changes with treatment of HMG-CoA lyase deficiency.
- December 19th, 2007
Pediatr Neurol. 2007 Jul;37(1):47-50.
Zafeiriou DI, Vargiami E, Mayapetek E, Augoustidou-Savvopoulou P, Mitchell GA.
In this paper, the authors describe a patient with HMG-CoA Lyase deficiency. He initially presented at 8 months with seizures during a gastroenteritis; he had hepatomegaly and elevated liver enzymes. Urine organic acids and plasma acylcarnitine profile were consistent with 3-hydroxy-3-methylglutaryl coenzyme a lyase deficiency. White matter changes were noted, but these normalized with initiation of a leucine-restricted diet. 12 months later, he was developmentaly normal.
Thank you very much in advance for your contributions to this blog (Click on login to register and post a comment).
Click this link to see the most recent online abstracts of major genetics journals.
Philippe Campeau, MD
Resident in Medical Genetics at McGill University
OMMBID Blog Administrator -
- August 25th, 2007
A group led by Orly Elpeleg has identified a gene associated with pontocerebellar hypoplasia, a heterogenous group of conditions.
Deleterious Mutation in the Mitochondrial ArginylTransfer RNA Synthetase Gene Is Associated with Pontocerebellar Hypoplasia
Simon Edvardson, Avraham Shaag, Olga Kolesnikova, John Moshe Gomori, Ivan Tarassov, Tom Einbinder, Ann Saada, and Orly Elpeleg
The American Journal of Human Genetics, volume 81 (2007),
Thank you very much in advance for your contributions to this blog (Click on login to register and post a comment).Click this link to see the most recent online abstracts of major genetics journals.
Philippe Campeau, MD
Resident in Medical Genetics at McGill University
OMMBID Blog Administrator -
A lethal defect of mitochondrial and peroxisomal fission
- June 24th, 2007
N Engl J Med. 2007 Apr 26;356(17):1707-9.
A lethal defect of mitochondrial and peroxisomal fission.
Waterham HR, Koster J, van Roermund CW, Mooyer PA, Wanders RJ, Leonard JV.
girl with microcephaly, abnormal brain development, optic atrophy and hypoplasia. Biochemical analyses revealed lactic acidosis and an increase in very-long-chain fatty acids.
Because the peroxisomes and mitochondria in fibroblasts from the patient were similar to those in cells overexpressing dominant negative mutant DLP1, they sequenced this gene in their patient and found mutations.
Thank you very much in advance for your contributions to this blog (Click on login to register and post a message).
Philippe Campeau, MD
Resident in Medical Genetics at McGill University
OMMBID Blog Administrator -
Mitochondrial aspartyl-tRNA synthetase
- April 18th, 2007
Nat Genet. 2007 Apr;39(4):534-9. Epub 2007 Mar 25.
Scheper GC, van der Klok T, van Andel RJ, van Berkel CG, Sissler M, Smet J,
Muravina TI, Serkov SV, Uziel G, Bugiani M, Schiffmann R, Krageloh-Mann I,
Smeitink JA, Florentz C, Van Coster R, Pronk JC, van der Knaap MS.Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation is a recently defined condition. In this interesting study, mutations were identified in a gene encoding mitochondrial aspartyl-tRNA synthetase, in affected individuals from all 30 families studied.
Thank you very much in advance for your contributions to this blog (Click on login to register and post a message).Philippe Campeau, MD
Resident in Medical Genetics at McGill University
OMMBID Blog Administrator -
New IEM: Mitochondrial Phosphate-Carrier Deficiency
- January 12th, 2007
Mitochondrial Phosphate-Carrier Deficiency: A Novel Disorder of Oxidative Phosphorylation
Johannes A. Mayr, Olaf Merkel, Sepp D. Kohlwein, Boris R. Gebhardt, Hansjosef Böhles, Ulrike Fötschl, Johannes Koch, Michaela Jaksch, Hanns Lochmüller, Rita Horváth, Peter Freisinger, and Wolfgang Sperl
The American Journal of Human Genetics, volume 80 (2007)
This group describes two patients from the same family, who presented with hypotonia and cardiomyopathy. Investigations revealed defective ATP synthesis in muscle. After excluding potentially culptrit genes, they sequenced SLC25A3, and identified and then proved a deficiency in the mitochodrial phosphate carrier. And thus a new inborn error of metabolism is described.Thank you very much in advance for your contributions to this blog (Click on login to register and post a message).
Philippe Campeau, MD
Resident in Medical Genetics at McGill University
OMMBID Blog Administrator
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