نتایج جستجو برای: merrf

تعداد نتایج: 762  

Journal: :Human molecular genetics 2015
Sarah L Sawyer Andy Cheuk-Him Ng A Micheil Innes Justin D Wagner David A Dyment Martine Tetreault Jacek Majewski Kym M Boycott Robert A Screaton Garth Nicholson

Multiple symmetric lipomatosis (MSL) is a mitochondrial disorder with impaired brown fat metabolism that has been associated with MERRF mutations in some, but not all, patients. We studied a sibling pair and an unrelated indiviadual who presented with MSL and neuropathy to determine the genetic etiology of this disorder in patients who did not carry the MSL-associated MERRF mutation. Whole-exom...

2010
Hye-Eun Seo Su-Kyeong Hwang Byung Ho Choe Min-Hyun Cho Sung-Pa Park Soonhak Kwon

This study was conducted to investigate the etiology, the clinical characteristics and prognosis of acute necrotizing encephalopathy (ANE) in Korean children. Six children (1 yr to 7 yr) patients with ANE were enrolled. They were diagnosed by clinical and radiological characteristics and their clinical data were retrospectively analyzed. In a search of clinically plausible causes, brain MRI in ...

Journal: :Brain : a journal of neurology 1998
P F Chinnery N Howell R N Lightowlers D M Turnbull

The majority of pathogenic mitochondrial DNA (mtDNA) mutations are heteroplasmic, with both mutant and wild-type alleles present within the same individual. MtDNA is transmitted only from females to their offspring but a single female can bear offspring who harbour different levels of mutant mtDNA and have a variable phenotype. In single families, this complex genetic and phenotypic variability...

Journal: :The Journal of neuroscience : the official journal of the Society for Neuroscience 1997
L Zhou A Chomyn G Attardi C A Miller

Selective vulnerability of subpopulations of neurons is a striking feature of neurodegeneration. Mitochondrially transmitted diseases are no exception. In this study CNS tissues from a patient with myoclonus epilepsy and ragged red fibers (MERRF) syndrome, which results from an A to G transition of nucleotide (nt) 8344 in the mitochondrial tRNALys gene, were examined for the proportion of mutan...

2011
Josef Finsterer

Objectives: Mitochondrial disorders (MIDs) are usually multisystem diseases and may manifest in addition to other systems also in the vasculature. Method: Literature review by using appropriate key words. Results: Vasculopathy in MIDs particularly manifests in arteries in form of a macroor microangiopathy. Direct evidence for microangiopathy in MIDs derives from the following findings: histolog...

Journal: :Molecular therapy : the journal of the American Society of Gene Therapy 2015
Masami Hashimoto Sandra R Bacman Susana Peralta Marni J Falk Anne Chomyn David C Chan Sion L Williams Carlos T Moraes

We have designed mitochondrially targeted transcription activator-like effector nucleases or mitoTALENs to cleave specific sequences in the mitochondrial DNA (mtDNA) with the goal of eliminating mtDNA carrying pathogenic point mutations. To test the generality of the approach, we designed mitoTALENs to target two relatively common pathogenic mtDNA point mutations associated with mitochondrial d...

Journal: :Folia neuropathologica 2007
Maciej Pronicki Jolanta Sykut-Cegielska Ewa Matyja Jacek Musialowicz Elzbieta Karczmarewicz Katarzyna Tonska Janusz Piechota Dorota Piekutowska-Abramczuk Pawel Kowalski Ewa Bartnik

UNLABELLED Leigh syndrome (LS), or subacute necrotizing encephalomyelopathy, having relatively homogeneous clinical symptomatology and pattern of neuropathological changes, shows remarkable heterogeneity in biochemical and molecular background. G8363A mitochondrial DNA mutation typical for MERRF syndrome and progressive cardiomyopathy may also be associated with LS. Clinical, biochemical and pa...

Journal: :Human molecular genetics 2004
Olga A Kolesnikova Nina S Entelis Clarisse Jacquin-Becker Francine Goltzene Zofia M Chrzanowska-Lightowlers Robert N Lightowlers Robert P Martin Ivan Tarassov

Mitochondrial DNA (mtDNA) mutations are an important cause of human disease for which there is no efficient treatment. Our aim was to determine whether the A8344G mitochondrial tRNA(Lys) mutation, which can cause the MERRF (myoclonic epilepsy with ragged-red fibers) syndrome, could be complemented by targeting tRNAs into mitochondria from the cytosol. Import of small RNAs into mitochondria has ...

Journal: :Neuro-Signals 2013
Jui-Chih Chang Ko-Hung Liu Yu-Chi Li Shou-Jen Kou Yau-Huei Wei Chieh-Sen Chuang Mingli Hsieh Chin-San Liu

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...

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