Mitochondrial disorders are among the most common inborn errors of metabolism; at least
15% are caused by mitochondrial DNA (mtDNA) mutations, which occur de novo or are …

Background Mitochondrial or oxidative phosphorylation diseases are relatively frequent,
multisystem disorders; in about 15% of cases they are caused by maternally inherited …

Mitochondrial disorders represent the most common group of inborn errors of metabolism.
Clinical manifestations can be extremely variable, ranging from single affected tissues to …

While the fertilized egg inherits its nuclear DNA from both parents, the mitochondrial DNA is
strictly maternally inherited. Cells contain multiple copies of mtDNA, each of which encodes …

This paper aims to address the ethical issues regarding prenatal diagnosis and
preimplantation genetic diagnosis (PGD) of mitochondrial disorders. Owing to the absence …

Although morally acceptable in theory, preimplantation genetic diagnosis (PGD) for
mitochondrial DNA (mtDNA) disorders raises several ethical questions in clinical practice …

Most patients with mitochondrial disorders are diagnosed by finding a respiratory chain
enzyme defect or a mutation in the mitochondrial DNA (mtDNA). The provision of accurate …

BACKGROUND: Mitochondrial diseases are caused by the mutations in both nuclear and
mitochondrial DNA (mtDNA) and the treatment options for patients who have mitochondrial …

The aim of this review was to provide an evidence-based approach to frequently asked
questions relating to the risk of transmitting a maternally inherited mitochondrial disorder …

Recent reports of strong selection of mitochondrial DNA (mtDNA) during transmission in
animal models of mtDNA disease, and of nuclear transfer in both animal models and …