Between 2003 and 2016, 17 patients with MERRF
qualified for this study from the Department of Neurology of Qilu Hospital of Shandong University, which consisted of 10 men and 7 women.
Lott et al., "Familial mitochondrial encephalomyopathy (MERRF
): genetic, pathophysiological, and biochemical characterization of a mitochondrial DNA disease," Cell, vol.
Observations that mitochondrial dysfunction occurs in common neurodegenerative diseases actually predate by several decades the realization that disorders such as MELAS, MERRF
, and LHON are mitochondrial cytopathies.
Among 123 mitochondrial myopathy/encephalomyopathy cases in our center, there are three cases occurred in scoliosis, including two cases of mitochondrial myopathy and one case of MERRF
- this indicates that scoliosis and skeleton deformity are rarely seen in myopathy/encephalomyopathy.
Myoclonus epilepsy with ragged-red fiber (MERRF
) is associated with specific point mutations of mtDNA, mainly the mt.8344A>G transition in the mitochondrial [tRNA.sup.Lys] coding gene , which is associated with severe defects in protein synthesis, leading to impaired OXPHOS .
A novel mitochondrial tRNA(Leu(UUR)) mutation in a patient with features of MERRF
and Kearns-Sayre syndrome.
Background: Myoclonic epilepsy with ragged red fibers (MERRF
) syndrome is characterized by myoclonus, generalized epilepsy, cerebellar ataxia, and ragged red fibers (RRFs) in the muscle.
Wei, "Upregulation of matrix metalloproteinase 1 and disruption of mitochondrial network in skin fibroblasts of patients with MERRF
syndrome," Annals of the New York Academy of Sciences, vol.
Mitochondrial disorders - include MELAS and MERRF
which are transmitted by the mother and intractable.
It therefore eliminates the need to synthesize expensive fluorescent probes and can be easily expanded for the analysis of other common mtDNA mutations, such as A8344G for the MERRF
(myoclonic epilepsy and ragged red fiber) syndrome, T8993G and T8993C for NARP (neuropathy, ataxia, and retinitis pigmentosa) syndrome, and the detection of homoplasmic LHON (Leber hereditary optic neuropathy) mutations.
'Myo-cardiomyopathy' is commonly associated with the A8344G 'MERRF
Distribution and threshold expression of the tRNA(Lys) mutation in skeletal muscle of patients with myoclonic epilepsy and ragged-red fibers (MERRF