Advances in genetic technology are having a major impact in the clinic, and mean that many
perceptions of the role and scope of genetic testing are having to change. Genomic testing …

Mitochondria are well known as 'the powerhouses of the cell'. Indeed, their major role is
cellular energy production driven by both mitochondrial and nuclear DNA. Such a feature …

STUDY QUESTION Which add-ons are safe and effective to be used in ART treatment?
SUMMARY ANSWER Forty-two recommendations were formulated on the use of add-ons in …

Background and Objectives Mitochondrial diseases (MDs) are the commonest group of
heritable metabolic disorders. Phenotypic diversity can make molecular diagnosis …

Mitochondrial replacement therapy (MRT) has been used to prevent maternal transmission
of disease-causing mutations in mitochondrial DNA (mtDNA). However, because MRT …

Primary dysfunction of autophagy due to Mendelian defects affecting core components of the
autophagy machinery or closely related proteins have recently emerged as an important …

Primary mitochondrial diseases (PMD) refer to a group of severe, often inherited genetic
conditions due to mutations in the mitochondrial genome or in the nuclear genes encoding …

Mitochondria are best known for their role in energy production, and they are the only
mammalian organelles that contain their own genomes. The mitochondrial genome mutation …

Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS)
syndrome, a maternally inherited mitochondrial disorder, is characterized by its genetic …

Mitochondrial DNA (mtDNA) is a multi-copy genome whose cell copy number varies
depending on tissue type. Mutations in mtDNA can cause a wide spectrum of diseases …