Purpose: The purpose of this statement is to review the literature regarding mitochondrial
disease and to provide recommendations for optimal diagnosis and treatment. This …

Abstract tRNAs, nexus molecules between mRNAs and proteins, have a central role in
translation. Recent discoveries have revealed unprecedented complexity of tRNA …

Mitochondria perform diverse yet interconnected functions, producing ATP and many
biosynthetic intermediates while also contributing to cellular stress responses such as …

Apoptosis is a process of programmed cell death that serves as a major mechanism for the
precise regulation of cell numbers, and as a defense mechanism to remove unwanted and …

Mitochondria are one of the most important organelles in cells. Mitochondria are semi-
autonomous organelles with their own genetic system, and can independently replicate …

Mitochondria are eukaryotic organelles that generate most of the energy in the cell by
oxidative phosphorylation (OXPHOS). Each mitochondrion contains multiple copies of a …

Mitochondrial disease presenting in childhood is characterized by clinical, biochemical and
genetic complexity. Some children are affected by canonical syndromes, but the majority …

Mitochondrial disease is hugely diverse with respect to associated clinical presentations and
underlying genetic causes, with pathogenic variants in over 300 disease genes currently …

Background: There are many different white matter disorders, both inherited and acquired,
and consequently the diagnostic process is difficult. Establishing a specific diagnosis is often …

Introduction In the last 10 years the field of mitochondrial genetics has widened, shifting the
focus from rare sporadic, metabolic disease to the effects of mitochondrial DNA (mtDNA) …