Functional Recovery of Human Cells Harbouring the Mitochondrial DNA Mutation MERRF <b><i>A8344G</i></b> via Peptide-Mediated Mitochondrial Delivery
نویسندگان
چکیده
منابع مشابه
Functional recovery of human cells harbouring the mitochondrial DNA mutation MERRF A8344G via peptide-mediated mitochondrial delivery.
We explored the feasibility of mitochondrial therapy using the cell-penetrating peptide Pep-1 to transfer mitochondrial DNA (mtDNA) between cells and rescue a cybrid cell model of the mitochondrial disease myoclonic epilepsy with ragged-red fibres (MERRF) syndrome. Pep-1-conjugated wild-type mitochondria isolated from parent cybrid cells incorporating a mitochondria-specific tag were used as do...
متن کاملUnusual presentations of patients with the mitochondrial MERRF mutation A8344G.
MERRF is typically characterized by myoclonus, generalized seizures and ragged-red fibers in muscular biopsy. We report a family (harbouring the A8344G mutation) with a late onset of the disease and an uncommon clinical manifestation, including episodes of reversible respiratory failure, the presence of ophthalmoplegia, and the absence of seizures and myoclonus in most subjects. We conducted hi...
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A woman with typical features of myoclonic epilepsy with ragged red fibers (MERRF) had a novel heteroplasmic mutation (G611A) in the mitochondrial DNA tRNA phenylalanine gene. The mutation was heteroplasmic (91%) in muscle but undetectable in accessible tissues from the patient and her maternal relatives. Single-fiber PCR analysis showed that the proportion of mutant genomes was higher in cytoc...
متن کاملNovel mitochondrial DNA ND5 mutation in a patient with clinical features of MELAS and MERRF.
BACKGROUND The mitochondrial DNA gene encoding subunit 5 of complex I (ND5) has turned out to be a hot spot for mutations associated with mitochondrial encephalomyopathy with lactic acidosis and strokelike episodes (MELAS) and various overlap syndromes. OBJECTIVE To describe a novel mutation in the ND5 gene in a young man man with an overlap syndrome of MELAS and myoclonus epilepsy with ragge...
متن کاملLETTER TO JMG Depletion of mitochondrial DNA in leucocytes harbouring the 3243ARG mtDNA mutation
Background: The 3243ARG MTTL1 mutation is the most common heteroplasmic mitochondrial DNA (mtDNA) mutation associated with disease. Previous studies have shown that the percentage of mutated mtDNA decreases in blood as patients get older, but the mechanisms behind this remain unclear. Objectives and method: To understand the dynamics of the process and the underlying mechanisms, an accurate flu...
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ژورنال
عنوان ژورنال: Neurosignals
سال: 2012
ISSN: 1424-862X,1424-8638
DOI: 10.1159/000341981