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Chinese Medical Journal Oct 2018
Topics: DNA, Mitochondrial; Epilepsies, Myoclonic; Humans; MERRF Syndrome; RNA, Transfer
PubMed: 30334546
DOI: 10.4103/0366-6999.243557 -
Revista de Neurologia Apr 2018The differential diagnosis of diseases that are accompanied by adult-onset girdle weakness is broad and includes motor neurone, neuromuscular junction or muscular...
INTRODUCTION
The differential diagnosis of diseases that are accompanied by adult-onset girdle weakness is broad and includes motor neurone, neuromuscular junction or muscular diseases. The 8344A>G mutation of the MTTK gene of mitochondrial DNA usually presents with involvement of multiple organs associated (or not) with girdle weakness. To date no cases of isolated girdle weakness have been reported as the presenting symptom of this mutation.
CASE REPORT
A 57-year-old male, with a four-year history of isolated clinical signs of progressive girdle weakness. He is the brother of a 59-year-old woman with the same clinical features. Muscular biopsy played a decisive role in the diagnosis and was characteristic of mitochondrial myopathy. The genetic analysis revealed the 8344A>G mutation of the MTTK gene of mitochondrial DNA.
CONCLUSIONS
The 8344A>G mutation of mitochondrial DNA can be associated with clinical signs and symptoms of adult-onset girdle weakness, and must therefore be included as part of its differential diagnosis.
Topics: Age of Onset; DNA, Mitochondrial; Diagnosis, Differential; Genetic Association Studies; Humans; MERRF Syndrome; Magnetic Resonance Imaging; Male; Middle Aged; Muscle Weakness; Muscle, Skeletal; Mutation, Missense; Phenotype; Point Mutation; RNA, Transfer, Lys
PubMed: 29645070
DOI: No ID Found -
International Journal of Molecular... Jun 2018The protein toxin cytotoxic necrotizing factor 1 (CNF1), which acts on the Rho GTPases that are key regulators of the actin cytoskeleton, is emerging as a potential...
The protein toxin cytotoxic necrotizing factor 1 (CNF1), which acts on the Rho GTPases that are key regulators of the actin cytoskeleton, is emerging as a potential therapeutic tool against certain neurological diseases characterized by cellular energy homeostasis impairment. In this brief communication, we show explorative results on the toxin’s effect on fibroblasts derived from a patient affected by myoclonic epilepsy with ragged-red fibers (MERRF) that carries a mutation in the m.8344A>G gene of mitochondrial DNA. We found that, in the patient’s cells, besides rescuing the wild-type-like mitochondrial morphology, CNF1 administration is able to trigger a significant increase in cellular content of ATP and of the mitochondrial outer membrane marker Tom20. These results were accompanied by a profound F-actin reorganization in MERRF fibroblasts, which is a typical CNF1-induced effect on cell cytoskeleton. These results point at a possible role of the actin organization in preventing or limiting the cell damage due to mitochondrial impairment and at CNF1 treatment as a possible novel strategy against mitochondrial diseases still without cure.
Topics: Adenosine Triphosphate; Bacterial Toxins; DNA, Mitochondrial; Electron Transport Complex IV; Escherichia coli; Escherichia coli Proteins; Fibroblasts; Gene Expression; Humans; MERRF Syndrome; Male; Membrane Transport Proteins; Middle Aged; Mitochondria; Mitochondrial Precursor Protein Import Complex Proteins; Mutation; Pilot Projects; Primary Cell Culture; Receptors, Cell Surface; Stress Fibers
PubMed: 29933571
DOI: 10.3390/ijms19071825 -
Internal Medicine (Tokyo, Japan) Dec 2018Myoclonus epilepsy associated with ragged-red fibers (MERRF) is traditionally characterized by myoclonus, generalized epilepsy and ragged-red fibers. We herein report a...
Myoclonus epilepsy associated with ragged-red fibers (MERRF) is traditionally characterized by myoclonus, generalized epilepsy and ragged-red fibers. We herein report a 42-year-old man who complained of falling after starting running, symptoms resembling those of paroxysmal kinesigenic dyskinesia. He showed only slight muscle weakness of the right quadriceps femoris. Muscle pathology and a genetic analysis identified him as having MERRF with a 8344A>G mtDNA mutation. We diagnosed his symptoms as having been caused by slight quadriceps femoris muscle weakness and exercise intolerance. This case suggests that mitochondrial myopathy should be considered in cases with strong muscle symptoms for muscle weakness.
Topics: Accidental Falls; Adult; DNA, Mitochondrial; Diagnosis, Differential; Dystonia; Exercise Tolerance; Genetic Testing; Humans; MERRF Syndrome; Male; Muscle Weakness; Muscle, Skeletal; Point Mutation; Running
PubMed: 29984755
DOI: 10.2169/internalmedicine.1210-18 -
Chinese Medical Journal Oct 2018
Topics: DNA, Mitochondrial; Epilepsies, Myoclonic; Glutamic Acid; Humans; MERRF Syndrome; RNA, Transfer
PubMed: 30334547
DOI: 10.4103/0366-6999.243575 -
European Annals of Otorhinolaryngology,... May 2020
Topics: Humans; Lipomatosis; MERRF Syndrome
PubMed: 32061576
DOI: 10.1016/j.anorl.2020.01.016 -
Asian Journal of Surgery Aug 2020
Topics: Connective Tissue Diseases; Dermatologic Surgical Procedures; Humans; Laparoscopy; Lipomatosis, Multiple Symmetrical; MERRF Syndrome; Male; Middle Aged; Subcutaneous Tissue; Surgery, Plastic
PubMed: 32456962
DOI: 10.1016/j.asjsur.2020.04.012 -
Chinese Medical Journal Jul 2019
Topics: Adult; DNA, Mitochondrial; Epilepsies, Myoclonic; Humans; MERRF Syndrome; Male; Mutation
PubMed: 31268906
DOI: 10.1097/CM9.0000000000000337 -
Asian Journal of Surgery Oct 2020
Topics: Carbon Dioxide; DNA, Mitochondrial; Endoscopy; Genotype; Humans; Lipoma; MERRF Syndrome; Male; Middle Aged; Mutation; Subcutaneous Tissue; Treatment Outcome
PubMed: 32631623
DOI: 10.1016/j.asjsur.2020.06.011 -
Frontiers in Neurology 2017Myoclonus epilepsy with ragged-red fibers (MERRFs), an inherited mitochondrial disorder, has characteristic morphological changes of ragged-red fibers (RRFs) in muscle...
Myoclonus epilepsy with ragged-red fibers (MERRFs), an inherited mitochondrial disorder, has characteristic morphological changes of ragged-red fibers (RRFs) in muscle biopsy, in the absence of which mitochondrial etiology is usually not considered in patients with phenotypes suggestive of MERRF. In these circumstances, MERRF can only be diagnosed using genetic analyses. The symptoms, pathological findings, and imaging results being age dependent, we can construct a protocol based on these characteristics to understand the disease's natural course and to manage patients more effectively. The absence of RRFs should not preclude a MERRF diagnosis.
PubMed: 29033892
DOI: 10.3389/fneur.2017.00520