How mitochondrial DNA mutations clonally expand in an individual cell is a question that
has perplexed mitochondrial biologists for decades. A growing body of literature indicates …

Mitochondrial medicine is a field that expanded exponentially in the last 30 years.
Individually rare, mitochondrial diseases as a whole are probably the most frequent genetic …

Primary mitochondrial disease describes a diverse group of neuro-metabolic disorders
characterised by impaired oxidative phosphorylation. Diagnosis is challenging;> 350 genes …

Idiopathic Parkinson's disease (iPD) is believed to have a heterogeneous pathophysiology,
but molecular disease subtypes have not been identified. Here, we show that iPD can be …

Human mitochondria possess a multi-copy circular genome, mitochondrial DNA (mtDNA),
that is essential for cellular energy metabolism. The number of copies of mtDNA per cell, and …

Mitochondrial dysfunction in skeletal muscle fibres occurs with both healthy aging and a
range of neuromuscular diseases. The impact of mitochondrial dysfunction in skeletal …

Measurement of the individual enzymes involved in mitochondrial oxidative phosphorylation
(OXPHOS) forms a key part of diagnostic investigations in patients with suspected …

Background: Myotonic dystrophy type 1 (DM1) is a dominant autosomal neuromuscular
disorder caused by the inheritance of a CTG triplet repeat expansion in the Dystrophia …

Biallelic mutations in PINK1/PRKN cause recessive Parkinson's disease. Given the
established role of PINK1/Parkin in regulating mitochondrial dynamics, we explored …

Mitochondrial respiratory chain deficiency and mitochondrial DNA deletions are reported in
substantia nigra neurons from healthy aged and Parkinson's disease cases, with extensive …