A lethal defect of mitochondrial and peroxisomal fission
- PMID: 17460227
- DOI: 10.1056/NEJMoa064436
A lethal defect of mitochondrial and peroxisomal fission
Abstract
We report on a newborn girl with microcephaly, abnormal brain development, optic atrophy and hypoplasia, persistent lactic acidemia, and a mildly elevated plasma concentration of very-long-chain fatty acids. We found a defect of the fission of both mitochondria and peroxisomes, as well as a heterozygous, dominant-negative mutation in the dynamin-like protein 1 gene (DLP1). The DLP1 protein has previously been implicated, in vitro, in the fission of both these organelles. Overexpression of the mutant DLP1 in control cells reproduced the fission defect. Our findings are representative of a class of disease characterized by defects in both mitochondria and peroxisomes.
Copyright 2007 Massachusetts Medical Society.
Comment in
-
Mitochondrial dynamics in disease.N Engl J Med. 2007 Apr 26;356(17):1707-9. doi: 10.1056/NEJMp078040. N Engl J Med. 2007. PMID: 17460225 No abstract available.
Similar articles
-
Peroxisome division is impaired in a CHO cell mutant with an inactivating point-mutation in dynamin-like protein 1 gene.Exp Cell Res. 2006 May 15;312(9):1671-84. doi: 10.1016/j.yexcr.2006.01.028. Epub 2006 Mar 9. Exp Cell Res. 2006. PMID: 16529741
-
Failure of microtubule-mediated peroxisome division and trafficking in disorders with reduced peroxisome abundance.J Cell Sci. 2006 Feb 15;119(Pt 4):636-45. doi: 10.1242/jcs.02776. Epub 2006 Jan 31. J Cell Sci. 2006. PMID: 16449325
-
Peroxisome elongation and constriction but not fission can occur independently of dynamin-like protein 1.J Cell Sci. 2004 Aug 1;117(Pt 17):3995-4006. doi: 10.1242/jcs.01268. J Cell Sci. 2004. PMID: 15286177
-
Growth and division of peroxisomes.Int Rev Cytol. 2006;255:237-90. doi: 10.1016/S0074-7696(06)55005-3. Int Rev Cytol. 2006. PMID: 17178468 Review.
-
Peroxisome homeostasis: Mechanisms of division and selective degradation of peroxisomes in mammals.Biochim Biophys Acta. 2016 May;1863(5):984-91. doi: 10.1016/j.bbamcr.2015.09.032. Epub 2015 Oct 3. Biochim Biophys Acta. 2016. PMID: 26434997 Review.
Cited by
-
Not So Rare: Diseases Based on Mutant Proteins Controlling Endoplasmic Reticulum-Mitochondria Contact (MERC) Tethering.Contact (Thousand Oaks). 2024 Jul 25;7:25152564241261228. doi: 10.1177/25152564241261228. eCollection 2024 Jan-Dec. Contact (Thousand Oaks). 2024. PMID: 39070058 Free PMC article. Review.
-
De Novo DNM1L Mutation in a Patient with Encephalopathy, Cardiomyopathy and Fatal Non-Epileptic Paroxysmal Refractory Vomiting.Int J Mol Sci. 2024 Jul 16;25(14):7782. doi: 10.3390/ijms25147782. Int J Mol Sci. 2024. PMID: 39063023 Free PMC article.
-
Serine 39 in the GTP-binding domain of Drp1 is involved in shaping mitochondrial morphology.FEBS Open Bio. 2024 Jul;14(7):1147-1165. doi: 10.1002/2211-5463.13820. Epub 2024 May 17. FEBS Open Bio. 2024. PMID: 38760979 Free PMC article.
-
Cdk8/CDK19 promotes mitochondrial fission through Drp1 phosphorylation and can phenotypically suppress pink1 deficiency in Drosophila.Nat Commun. 2024 Apr 18;15(1):3326. doi: 10.1038/s41467-024-47623-8. Nat Commun. 2024. PMID: 38637532 Free PMC article.
-
Drp1 controls complex II assembly and skeletal muscle metabolism by Sdhaf2 action on mitochondria.Sci Adv. 2024 Apr 5;10(14):eadl0389. doi: 10.1126/sciadv.adl0389. Epub 2024 Apr 3. Sci Adv. 2024. PMID: 38569044 Free PMC article.
Publication types
MeSH terms
Substances
LinkOut - more resources
Full Text Sources
Other Literature Sources
Molecular Biology Databases
Research Materials
Miscellaneous