[HTML][HTML] A lethal defect of mitochondrial and peroxisomal fission

HR Waterham, J Koster… - … England Journal of …, 2007 - Mass Medical Soc
HR Waterham, J Koster, CWT van Roermund, PAW Mooyer, RJA Wanders, JV Leonard
New England Journal of Medicine, 2007Mass Medical Soc
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 …
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.
The New England Journal Of Medicine