A lethal defect of mitochondrial and peroxisomal fission

Authors:
Waterham HR, Koster J, van Roermund CW, Mooyer PA, Wanders RJ, Leonard JV
In:
Source: N Engl J Med
Publication Date: (2007)
Issue: 356(17): 1736-41
Research Area:
Cancer Research/Cell Biology
Cells used in publication:
Fibroblast, dermal (NHDF-Neo), human neonatal
Species: human
Tissue Origin: dermal
Fibroblast, dermal(NHDF-Ad), human adult
Species: human
Tissue Origin: dermal
Platform:
Nucleofector® I/II/2b
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.