Human longevity has increased dramatically during the past century. More than 20% of the 9
billion population of the world will exceed the age of 60 in 2050. Since the last three …

Background Genetic mitochondrial diseases represent a significant challenge to human
health. These diseases are extraordinarily heterogeneous in clinical presentation and …

Proliferative glomerulonephritis is a severe condition that often leads to kidney failure. There
is a significant lack of effective treatment for these disorders. Here, following the …

Symmetric, progressive, necrotizing lesions in the brainstem are a defining feature of Leigh
syndrome (LS). A mechanistic understanding of the pathogenesis of these lesions has been …

Primary mitochondrial diseases represent some of the most common and severe inherited
metabolic disorders, affecting~ 1 in 4,300 live births. The clinical and molecular diversity …

Mitochondrial diseases are extremely heterogeneous genetic conditions characterized by
faulty oxidative phosphorylation (OXPHOS). OXPHOS deficiency can be the result of …

Mitochondria are eukaryotic organelles known best for their roles in energy production and
metabolism. While often thought of as simply the 'powerhouse of the cell,'these organelles …

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 …

Leigh syndrome and MELAS (mitochondrial encephalomyopathy, lactic acidosis, and stroke‐
like episodes) are two of the most frequent pediatric mitochondrial diseases. Both cause …

Leigh syndrome is a fatal neurometabolic disorder caused by defects in mitochondrial
function. Mechanistic target of rapamycin (mTOR) inhibition with rapamycin attenuates …