Background Recent work has shown that mitochondrial biogenesis and mitochondrial
functions are critical determinants of embryonic development. However, the expression of …

BACKGROUND: Low levels of serum testosterone, as typically found in women and
children, cannot be measured reliably by immunoassays. Our aim was to develop a …

The heterozygous R445H mutation in OPA1 was found in five patients with optic atrophy and
deafness. Audiometry suggested that the sensorineural deafness resulted from auditory …

Objective Mutations of the mitofusin 2 gene (MFN2) may account for at least a third of the
cases of Charcot–Marie–Tooth disease type 2 (CMT2). This study investigates mitochondrial …

Nuclear mitochondrial pseudogenes (Numts) have been found in the genome of many
eukaryote species, including humans. Using a BLAST approach, we found 1105 DNA …

Autosomal dominant optic atrophy (ADOA), also known as Kjer disease, is characterized by
moderate to severe loss of visual acuity with an insidious onset in early childhood, blue …

The three adenine nucleotide translocator ({ANT1} to {ANT3}) isoforms, differentially
expressed in human cells, play a crucial role in cell bioenergetics by catalyzing ADP and …

Oncocytomas are large cell tumors characterized by an abnormal proliferation of
mitochondria. To investigate this phenomenon in thyroid oncocytomas, we determined gene …

Acute intermittent porphyria (AIP), an inherited hepatic disorder, is due to a defect of
hydroxymethylbilane synthase (HMBS), an enzyme involved in heme biosynthesis. AIP is …

Here, we show that 3 days of mitochondrial uncoupling, induced by low concentrations of
dinitrophenol (10 and 50 μM) in cultured human HepG2 cells, triggers cellular metabolic …