A fatal mitochondrial disease is associated with defective NFU1 function in the maturation of a subset of mitochondrial Fe-S proteins.

We report on ten individuals with a fatal infantile encephalopathy and/or pulmonary hypertension, leading to death before the age of 15 months. Hyperglycinemia and lactic acidosis were common findings. Glycine cleavage system and pyruvate dehydrogenase complex (PDHC) activities were low.

Early mitochondrial dysfunction in an infant with Alexander disease.

Alexander disease is a neurodegenerative disorder characterized by macrocephaly and progressive demyelination with frontal lobe preponderance. The infantile form, the most frequent variant, appears between birth and 2 years of age and involves a severe course with a rapid neurologic deterioration. Although magnetic resonance imaging is useful for diagnosis, currently diagnosis is confirmed by the finding of missense mutation in the glial fibrillary acidic protein (GFAP) gene.

Down-regulation of heart HFABP and UCP2 gene expression in diet-induced (cafeteria) obese rats.

Long-term exposure to hypercaloric high fat diet induced marked tissue fatty acid accumulation and may influence cell function. Previous results in our laboratory showed that uncoupling proteins (UCPs) and fatty acid-binding protein (FABP) gene expression are changed in adipose tissue and skeletal muscle tissue in diet-induced (cafeteria) obese animals. The aim of this study was to examine heart FABP (HFABP) and UCP2 gene expressions in dietary obese rats.