MITOCHONDRIAL encephalomyopathies are usually divided into three distinct clinical
subgroups:(1) mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like …

Mitochondrial morphology is dynamically controlled by a balance between fusion and
fission. The physiological importance of mitochondrial fission in vertebrates is less clearly …

Hydrogen sulfide (H2S) is a synaptic modulator as well as a neuroprotectant in the brain. We
recently showed that H2S protects neurons from oxidative stress by increasing the levels of …

Background Several families have been described in which a mutation of mitochondrial
DNA, the substitution of guanine for adenine (A-to-G) at position 3243 of leucine transfer …

Mutant mitochondrial DNA with large-scale deletions (delta-mtDNA) has been frequently
observed in patients with chronic progressive external ophthalmoplegia (CPEO), a subgroup …

Here we investigated the pathogenesis of deletion mutant mitochondrial (mt) DNA by
generating mice with mutant mtDNA carrying a 4696-basepair deletion (ΔmtDNA4696), and …

Mice carrying mitochondrial DNA (mtDNA) with pathogenic mutations would provide a
system in which to study how mutant mtDNAs are transmitted and distributed in tissues …

We studied 40 MELAS patients (21 male and 19 female) to characterize the clinical features
and biochemical and muscle biopsy findings related to the mtDNA mutation at the nucleotide …

The basal lamina of muscle fibers plays a crucial role in the development and function of
skeletal muscle. An important laminin receptor in muscle is integrin α7β1D. Integrin β1 is …

In 3 of 40 MELAS patients, a new common mutation, a T-to-C transition at nucleotide
position 3271 in the mitochondrial tRNA Leu (UUR) gene was recognized and was very …