Increased incidence of mitochondrial cytochrome c-oxidase gene mutations in patients with myelodysplastic syndromes

Increased Incidence of Mitochondrial Cytochrome C Oxidase 1 Gene Mutations in Patients with Primary Ovarian Insufficiency

Primary ovarian insufficiency (POI), also known as premature ovarian failure (POF), is defined as more than six months of cessation of menses before the age of 40 years, with two serum follicle stimulating hormone (FSH) levels (at least 1 month apart) falling in the menopause range. The cause of POI remains undetermined in the majority of cases, although some studies have reported increased lev...

Mitochondrial tRNA mutations in patients with myelodysplastic syndromes.

Increasing evidence showed that mitochondria play an important role in the development of myelodysplastic syndromes (MDS). Mitochondrial dysfunctions caused by mitochondrial DNA mutations, especially mitochondrial tRNA mutations, were found to be associated with MDS in many studies. However, the link between a candidate mitochondrial tRNA mutation and MDS was not clear. In this study, we invest...

Mutations in APOPT1, encoding a mitochondrial protein, cause cavitating leukoencephalopathy with cytochrome c oxidase deficiency.

Cytochrome c oxidase (COX) deficiency is a frequent biochemical abnormality in mitochondrial disorders, but a large fraction of cases remains genetically undetermined. Whole-exome sequencing led to the identification of APOPT1 mutations in two Italian sisters and in a third Turkish individual presenting severe COX deficiency. All three subjects presented a distinctive brain MRI pattern characte...

Prokaryotic models for mitochondrial cytochrome c oxidase.

992 Introduction Cytochrome c oxidase is a fascinating enzyme that has attracted the attention of numerous researchers over the past two decades [ 1-61. The enzyme catalyses the one-electron oxidation of cytochrome c and the four-electron reduction of molecular oxygen to water. In doing so, the enzyme electrogenically pumps protons across the inner mitochondrial membrane, thus generating a tran...

Prevalence of hemochromatosis gene (HFE) mutations in Greek patients with myelodysplastic syndromes.