Author(s): Waterham HR, Koster J, van Roermund CW, Mooyer PA, Wanders RJ, , Waterham HR, Koster J, van Roermund CW, Mooyer PA, Wanders RJ,
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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.
This article was published in N Engl J Med
and referenced in Single Cell Biology