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Previous Volume 356:1736-1741 April 26, 2007 Number 17 Next

	Full Text PDF PDA Full Text PowerPoint Slide Set Perspective by Chan, D. C. Add to Personal Archive Add to Citation Manager Notify a Friend E-mail When Cited E-mail When Letters Appear PubMed Citation

SUMMARY

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.

Source Information

From the Departments of Pediatrics (H.R.W., R.J.A.W.) and Clinical Chemistry (H.R.W., J.K., C.W.T.R., P.A.W.M., R.J.A.W.), Laboratory Genetic Metabolic Diseases, Academic Medical Center, Amsterdam; and the Department of Pediatrics, Institute of Child Health, University College London, London (J.V.L.).

Dr. Waterham and Ms. Koster contributed equally to this article.

Address reprint requests to Dr. Waterham at Laboratory Genetic Metabolic Diseases, Rm. F0-224, Department of Clinical Chemistry, Academic Medical Center, Meibergdreef 9, 1105 AZ Amsterdam, the Netherlands, or at h.r.waterham{at}amc.uva.nl.

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