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Search on : MERRF and Syndrome [Words]
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[PMID]: 29449072
[Au] Autor:Finsterer J; Zarrouk-Mahjoub S; Shoffner JM
[Ad] Address:Krankenanstalt Rudolfstiftung, Vienna, Austria. Electronic address: fifigs1@yahoo.de.
[Ti] Title:MERRF Classification: Implications for Diagnosis and Clinical Trials.
[So] Source:Pediatr Neurol;, 2017 Dec 13.
[Is] ISSN:1873-5150
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:BACKGROUND: Given the etiologic heterogeneity of disease classification using clinical phenomenology, we employed contemporary criteria to classify variants associated with myoclonic epilepsy with ragged-red fibers (MERRF) syndrome and to assess the strength of evidence of gene-disease associations. Standardized approaches are used to clarify the definition of MERRF, which is essential for patient diagnosis, patient classification, and clinical trial design. METHODS: Systematic literature and database search with application of standardized assessment of gene-disease relationships using modified Smith criteria and of variants reported to be associated with MERRF using modified Yarham criteria. RESULTS: Review of available evidence supports a gene-disease association for two MT-tRNAs and for POLG. Using modified Smith criteria, definitive evidence of a MERRF gene-disease association is identified for MT-TK. Strong gene-disease evidence is present for MT-TL1 and POLG. Functional assays that directly associate variants with oxidative phosphorylation impairment were critical to mtDNA variant classification. In silico analysis was of limited utility to the assessment of individual MT-tRNA variants. With the use of contemporary classification criteria, several mtDNA variants previously reported as pathogenic or possibly pathogenic are reclassified as neutral variants. CONCLUSIONS: MERRF is primarily an MT-TK disease, with pathogenic variants in this gene accounting for ~90% of MERRF patients. Although MERRF is phenotypically and genotypically heterogeneous, myoclonic epilepsy is the clinical feature that distinguishes MERRF from other categories of mitochondrial disorders. Given its low frequency in mitochondrial disorders, myoclonic epilepsy is not explained simply by an impairment of cellular energetics. Although MERRF phenocopies can occur in other genes, additional data are needed to establish a MERRF disease-gene association. This approach to MERRF emphasizes standardized classification rather than clinical phenomenology, thus improving patient diagnosis and clinical trial design.
[Pt] Publication type:JOURNAL ARTICLE; REVIEW
[Em] Entry month:1802
[Cu] Class update date: 180216
[Lr] Last revision date:180216
[St] Status:Publisher

  2 / 513 MEDLINE  
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[PMID]: 29272804
[Au] Autor:Bindu PS; Sonam K; Govindaraj P; Govindaraju C; Chiplunkar S; Nagappa M; Kumar R; Vekhande CC; Arvinda HR; Gayathri N; Srinivas Bharath MM; Ponmalar JNJ; Philip M; Vandana VP; Khan NA; Nunia V; Paramasivam A; Sinha S; Thangaraj K; Taly AB
[Ad] Address:Dept. of Neurology, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, India; Neuromuscular lab-Neurobiology Research Centre, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, India.
[Ti] Title:Outcome of epilepsy in patients with mitochondrial disorders: Phenotype genotype and magnetic resonance imaging correlations.
[So] Source:Clin Neurol Neurosurg;164:182-189, 2018 Jan.
[Is] ISSN:1872-6968
[Cp] Country of publication:Netherlands
[La] Language:eng
[Ab] Abstract:OBJECTIVES: Studies exploring the outcome of epilepsy in patients with mitochondrial disorders are limited. This study examined the outcome of epilepsy in patients with mitochondrial disorders and its relation with the clinical phenotype, genotype and magnetic resonance imaging findings. PATIENTS AND METHODS: The cohort was derived from the database of 67 patients with definite genetic diagnosis of mitochondrial disorders evaluated over a period of 11years (2006-2016). Among this, 27 had epilepsy and were included in final analysis. Data were analyzed with special reference to clinical phenotypes, genotypes, epilepsy characteristics, EEG findings, anti epileptic drugs used, therapeutic response, and magnetic resonance imaging findings. Patients were divided into three groups according to the seizure frequency at the time of last follow up: Group I- Seizure free; Group II- Infrequent seizures; Group III- uncontrolled seizures. For each group the clinical phenotype, genotype, magnetic resonance imaging and duration of epilepsy were compared. RESULTS: The phenotypes & genotypes included Mitochondrial Encephalopathy Lactic Acidosis and Stroke like episodes (MELAS) & m.3243A>G mutation (n = 10), Myoclonic Epilepsy Ragged Red Fiber syndrome (MERRF) & m.8344A>G mutation (n = 4), Chronic Progressive External Ophthalmoplegia plus &POLG1 mutation (CPEO, n = 6), episodic neuroregression due to nuclear mutations (n = 6; NDUFV1 (n = 3), NDUFA1, NDUFS2, MPV17-1 one each), and one patient with infantile basal ganglia stroke syndrome, mineralizing angiopathy &MT-ND5 mutations. Seven patients (25.9%) were seizure free; seven had infrequent seizures (25.9%), while thirteen (48.1%) had frequent uncontrolled seizures. Majority of the subjects in seizure free group had episodic neuroregression & leukoencephalopathy due to nuclear mutations (85.7%). Patients in group II with infrequent seizures had CPEO, POLG1 mutation and a normal MRI (71%) while 62% of the subjects in group III had MELAS, m.3243A>G mutation and stroke like lesions on MRI. CONCLUSIONS: A fair correlation exists between the outcome of epilepsy, clinical phenotypes, genotypes and magnetic resonance imaging findings in patients with mitochondrial disorders. The recognition of these patterns is important clinically because of the therapeutic and prognostic implications.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1712
[Cu] Class update date: 180206
[Lr] Last revision date:180206
[St] Status:In-Data-Review

  3 / 513 MEDLINE  
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[PMID]: 29288969
[Au] Autor:Wu YT; Hsu YH; Huang CY; Ho MC; Cheng YC; Wen CH; Ko HW; Lu HE; Chen YC; Tsai CL; Hsu YC; Wei YH; Hsieh PCH
[Ad] Address:Center for Mitochondrial Medicine and Free Radical Research, Changhua Christian Hospital, Changhua, Taiwan.
[Ti] Title:Generation of an induced pluripotent stem cell (iPSC) line from a 40-year-old patient with the A8344G mutation of mitochondrial DNA and MERRF (myoclonic epilepsy with ragged red fibers) syndrome.
[So] Source:Stem Cell Res;27:10-14, 2017 Dec 19.
[Is] ISSN:1876-7753
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:Mitochondrial defects are associated with clinical manifestations from common diseases to rare genetic disorders. Myoclonus epilepsy associated with ragged-red fibers (MERRF) syndrome results from an A to G transition at nucleotide position 8344 in the tRNA gene of mitochondrial DNA (mtDNA) and is characterized by myoclonus, myopathy and severe neurological symptoms. In this study, Sendai reprogramming method was used to generate an iPS cell line carrying the A8344G mutation of mtDNA from a MERRF patient. This patient-specific iPSC line expressed pluripotent stem cell markers, possessed normal karyotype, and displayed the capability to differentiate into mature cells in three germ layers.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1712
[Cu] Class update date: 171230
[Lr] Last revision date:171230
[St] Status:Publisher

  4 / 513 MEDLINE  
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[PMID]: 29139113
[Au] Autor:Kraya T; Deschauer M; Joshi PR; Zierz S; Gaul C
[Ad] Address:Department of Neurology, University Hospital Halle-Saale, Halle, Saale, Germany.
[Ti] Title:Prevalence of Headache in Patients With Mitochondrial Disease: A Cross-Sectional Study.
[So] Source:Headache;, 2017 Nov 15.
[Is] ISSN:1526-4610
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:BACKGROUND: Mitochondrial diseases are a heterogeneous group of diseases with different phenotypes and genotypes. Headache and, particularly migraine, seems to occur often in patients with MELAS and in patients with CPEO phenotypes. The International Classification of Headache Disorders (ICHD-3 beta) has classified headache as a secondary entity only in MELAS patients. Other headache phenotypes in mitochondrial diseases are not considered in ICHD-3beta. In this study, we analyzed headache phenomenology in a large group of patients with mitochondrial disorders. METHODS: A cross-sectional questionnaire-based study on 85 patients with mitochondrial disease with different genotypes and phenotypes was conducted between 2010 and 2011. A structured headache questionnaire according to ICHD-2 was used followed by a telephone interview by a headache expert. Prevalence and characteristics of headache could be analyzed in 42 patients. Headache diagnosis was correlated with genotypes and phenotypes. In addition, the mtDNA haplotype H was analyzed. RESULTS: Headache was reported in 29/42 (70%; 95% CI, from 55.1 to 83.0%) of the patients. Tension-type headache (TTH) showed the highest prevalence in 16/42 (38%; 95% CI, from 23.4 to 52.8%) patients, followed by migraine and probable migraine in 12/42 (29%; 95% CI, from 14.9 to 42.2%) patients. Nine of the 42 (21%; 95% CI, from 9 to 33.8%) patients reported two different headache types. Patients with the mtDNA mutation m.3243A > G (n = 8) and MELAS (n = 7) showed the highest prevalence of headaches (88% and 85%, respectively). In patients with the CPEO phenotype (n = 32), headache occurred in 14/18 (78%; 95% CI, from 58.6 to 97%) of patients with single deletions, and in 7/13 (54%; 95% CI, from 26.7 to 80.9%) patients with multiple mtDNA deletions. There were no association between the mtDNA haplotype Hand the headache-diagnosis. CONCLUSIONS: The prevalence of headache was higher in patients with mitochondrial diseases than reported in the general population. In all phenotype and genotype groups, TTH was more frequent than migraine. The data also show that the current ICHD-3 beta exclusively focused on MELAS syndrome as vasculopathy does not consider the broader spectrum of headache phenotypes in mitochondrial disorders.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1711
[Cu] Class update date: 171115
[Lr] Last revision date:171115
[St] Status:Publisher
[do] DOI:10.1111/head.13219

  5 / 513 MEDLINE  
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[PMID]: 29033892
[Au] Autor:Park SY; Kim SH; Lee YM
[Ad] Address:Departments of Pediatrics, Yonsei University College of Medicine, Seoul, South Korea.
[Ti] Title:Molecular Diagnosis of Myoclonus Epilepsy Associated with Ragged-Red Fibers Syndrome in the Absence of Ragged Red Fibers.
[So] Source:Front Neurol;8:520, 2017.
[Is] ISSN:1664-2295
[Cp] Country of publication:Switzerland
[La] Language:eng
[Ab] Abstract: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.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1710
[Cu] Class update date: 171018
[Lr] Last revision date:171018
[St] Status:PubMed-not-MEDLINE
[do] DOI:10.3389/fneur.2017.00520

  6 / 513 MEDLINE  
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[PMID]: 28686997
[Au] Autor:Finsterer J; Zarrouk-Mahjoub S
[Ad] Address:Krankenanstalt Rudolfstiftung, Vienna, Austria. Electronic address: fifigs1@yahoo.de.
[Ti] Title:Management of epilepsy in MERRF syndrome.
[So] Source:Seizure;50:166-170, 2017 Aug.
[Is] ISSN:1532-2688
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:Myoclonic epilepsy with ragged-red fibers (MERRF) syndrome is a rare syndromic mitochondrial disorder (MID) with a broad phenotypic but narrow genotypic heterogeneity. One of the predominant phenotypic features in addition to myopathy is epilepsy. The most frequent seizure type in MERRF is generalised myoclonic seizure but also focal myoclonic, focal atonic, generalised tonic-clonic, generalised atonic, generalised myoclonic-atonic, typical absences, or tonic-clonic seizures of unknown onset have been reported. There are no guidelines available for the management of epilepsy in MERRF syndrome but several expert opinions and general recommendations for the treatment of mitochondrial epilepsy have been published. According to these recommendations the antiepileptic drugs (AEDs) of choice are levetiracetam, topiramate, zonisamide, piracetam, and benzodiazepines. Perampanel has not been applied in MERRF patients but is promising in non-mitochondrial myoclonic epilepsy. Mitochondrion-toxic agents, including mitochondrion-toxic AEDs, such as valproate, carbamazepine, phenytoin, and barbiturates, should be avoided as well as AEDs potentially enhancing the frequency of myoclonus, such as phenytoin, carbamazepine, lamotrigine, vigabatrin, tiagabine, gabapentin, pregabalin, and oxcarbazepine.
[Pt] Publication type:JOURNAL ARTICLE; REVIEW
[Em] Entry month:1707
[Cu] Class update date: 170812
[Lr] Last revision date:170812
[St] Status:In-Process

  7 / 513 MEDLINE  
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[PMID]: 28630220
[Au] Autor:Lpez-Blanco R; Rojo-Sebastin A; Torregrosa-Martnez MH; Blazquez A
[Ad] Address:Neurodegenerative Diseases Group, Healthcare Research Institute Hospital 12 de Octubre (i+12), Madrid, Spain.
[Ti] Title:Beyond cervical lipomas: myoclonus, gait disorder and multisystem involvement leading to mitochondrial disease.
[So] Source:BMJ Case Rep;2017, 2017 Jun 19.
[Is] ISSN:1757-790X
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:Madelung's disease (benign symmetric lipomatosis) is a rare syndrome in which there are multiple lipomas around the neck, upper limbs and trunk in the context of chronic alcoholism. We report on a female patient with lipomas and slightly progressive myoclonus, neuropathy, myopathy, ataxia and respiratory systemic involvement (labelled in the past as Madelung's disease). Multisystem involvement and family history of lipomas led to the development of mitochondrial genetic tests, which can assess two concurrent mitochondrial mutations: the m.8344A>G mutation in MT-TK gene, related MERRF (myoclonic epilepsy with ragged-red fibre) phenotype and m.14484T>C mutation in the MT-ND6 gene responsible for Leber hereditary optic neuropathy phenotype.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1706
[Cu] Class update date: 170620
[Lr] Last revision date:170620
[St] Status:In-Process

  8 / 513 MEDLINE  
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[PMID]: 28607632
[Au] Autor:Chuang YC; Liou CW; Chen SD; Wang PW; Chuang JH; Tiao MM; Hsu TY; Lin HY; Lin TK
[Ad] Address:Department of Neurology, Kaohsiung Chang Gung Memorial Hospital and Chang Gung University College of Medicine, Kaohsiung 833, Taiwan.
[Ti] Title:Mitochondrial Transfer from Wharton's Jelly Mesenchymal Stem Cell to MERRF Cybrid Reduces Oxidative Stress and Improves Mitochondrial Bioenergetics.
[So] Source:Oxid Med Cell Longev;2017:5691215, 2017.
[Is] ISSN:1942-0994
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Myoclonus epilepsy associated with ragged-red fibers (MERRF) is a maternally inherited mitochondrial disease affecting neuromuscular functions. Mt.8344A>G mutation in mitochondrial DNA (mtDNA) is the most common cause of MERRF syndrome and has been linked to an increase in reactive oxygen species (ROS) level and oxidative stress, as well as impaired mitochondrial bioenergetics. Here, we tested whether WJMSC has therapeutic potential for the treatment of MERRF syndrome through the transfer of mitochondria. The MERRF cybrid cells exhibited a high mt.8344A>G mutation ratio, enhanced ROS level and oxidative damage, impaired mitochondrial bioenergetics, defected mitochondria-dependent viability, exhibited an imbalance of mitochondrial dynamics, and are susceptible to apoptotic stress. Coculture experiments revealed that mitochondria were intercellularly conducted from the WJMSC to the MERRF cybrid. Furthermore, WJMSC transferred mitochondria exclusively to cells with defective mitochondria but not to cells with normal mitochondria. MERRF cybrid following WJMSC coculture (MF+WJ) demonstrated improvement of mt.8344A>G mutation ratio, ROS level, oxidative damage, mitochondrial bioenergetics, mitochondria-dependent viability, balance of mitochondrial dynamics, and resistance against apoptotic stress. WJMSC-derived mitochondrial transfer and its therapeutic effect were noted to be blocked by F-actin depolymerizing agent cytochalasin B. Collectively, the WJMSC ability to rescue cells with defective mitochondrial function through donating healthy mitochondria may lead to new insights into the development of more efficient strategies to treat diseases related to mitochondrial dysfunction.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1706
[Cu] Class update date: 170616
[Lr] Last revision date:170616
[St] Status:In-Process
[do] DOI:10.1155/2017/5691215

  9 / 513 MEDLINE  
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[PMID]: 28328248
[Au] Autor:Fekete A; Hadzsiev K; Bene J; Nszai A; Mtys P; Till ; Melegh B
[Ad] Address:ltalnos Orvostudomnyi Kar, Klinikai Kzpont, Orvosi Genetikai Intzet, Pcsi Tudomnyegyetem Pcs, Jzsef A. u. 7., 7623.
[Ti] Title:Kt generciban megfigyelheto mitokondrilis DNS A8344G mutci. [A8344G mitochondrial DNA mutation observed in two generations].
[So] Source:Orv Hetil;158(12):468-471, 2017 Mar.
[Is] ISSN:0030-6002
[Cp] Country of publication:Hungary
[La] Language:hun
[Ab] Abstract:This article presents the case of a 62-year-old mother and her 41-year-old daughter, who have had severe neurological symptoms for a few decades. After a long investigation period the definite diagnosis of MERRF syndrome was confirmed. After DNA isolation from our patient's blood sample we examined the mitochondrial DNA with direct sequencing. An adenine-guanine substitution was detected in the tRNA gene at position 8344, based on the sequence ferogram the heteroplasmy was over 90%. The clinical phenotype was not clearly characteristic for MERRF syndrome, adult-onset and lipomas are not typical in this disease. In our case report we would like to draw attention to the great phenotypic variation of the mitochondrial diseases and we emphasize that these disorders are underdiagnosed in Hungary even today. Orv. Hetil., 2017, 158(12), 468-471.
[Mh] MeSH terms primary: DNA, Mitochondrial/analysis
MERRF Syndrome/diagnosis
MERRF Syndrome/genetics
[Mh] MeSH terms secundary: Adult
Female
Humans
MERRF Syndrome/metabolism
Middle Aged
Mutation
Phenotype
[Pt] Publication type:CASE REPORTS; JOURNAL ARTICLE
[Nm] Name of substance:0 (DNA, Mitochondrial)
[Em] Entry month:1708
[Cu] Class update date: 170808
[Lr] Last revision date:170808
[Js] Journal subset:IM
[Da] Date of entry for processing:170323
[St] Status:MEDLINE
[do] DOI:10.1556/650.2017.30634

  10 / 513 MEDLINE  
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[PMID]: 27029465
[Au] Autor:Zhu CC; Traboulsi EI; Parikh S
[Ad] Address:a Cleveland Clinic , Center for Pediatric Neurology , Cleveland , Ohio , USA.
[Ti] Title:Ophthalmological findings in 74 patients with mitochondrial disease.
[So] Source:Ophthalmic Genet;38(1):67-69, 2017 Jan-Feb.
[Is] ISSN:1744-5094
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:BACKGROUND: Mitochondrial disease often manifests with ophthalmologic signs and symptoms. Due to the important role of mitochondria in aerobic metabolism, the eyes are among the more preferentially involved organs. The clinical diagnosis of mitochondrial disease can be facilitated by an improved knowledge of the types and magnitude of their various manifestations. The aim of this study was to describe the ophthalmological manifestations of patients with mitochondrial diseases that are currently not well elucidated. METHODS: From a database of patients with verified primary mitochondrial disease (n = 81) who had visited our institution we identified 74 patients who had ophthalmologic examinations. Demographic, clinical, and ophthalmologic data were collected. Institutional review board approval was obtained. RESULTS: A total of 74 patients were identified with Leigh disease, MELAS, MERRF, CPEO, Pearson/Kearns-Sayre syndrome, as well as other mtDNA point mutations, deletions, depletions, and mutations. Overall, 26 of the 74 patients (35%) had one or more ophthalmological abnormalities. Retinal pigmentary changes were present in 12/74 (16%) of patients. Partial or total optic atrophy (OA) was noted in 8/74 (10%) of patients. Decreased extra-ocular movement (EOM) was noted in 6/74 (8%) of patients. Other ophthalmological findings included macular atrophy (2/74), macular dystrophy (1/74), and visual field defects (1/74). CONCLUSIONS: Over one-third of our cohort of patients with mitochondrial disorders had ophthalmological manifestations, some of which affected vision significantly. Eye examinations are critical in patients with mitochondrial disease so that complete assessments of the effects of the underlying mutations are uncovered and the appropriate counseling and care are given.
[Mh] MeSH terms primary: Eye Diseases/diagnosis
Mitochondrial Diseases/diagnosis
[Mh] MeSH terms secundary: Adult
DNA, Mitochondrial/genetics
Eye Diseases/genetics
Female
Humans
Kearns-Sayre Syndrome/diagnosis
Kearns-Sayre Syndrome/genetics
Leigh Disease/diagnosis
Leigh Disease/genetics
MELAS Syndrome/diagnosis
MELAS Syndrome/genetics
MERRF Syndrome/diagnosis
MERRF Syndrome/genetics
Male
Mitochondrial Diseases/genetics
Ophthalmoplegia, Chronic Progressive External/diagnosis
Ophthalmoplegia, Chronic Progressive External/genetics
Point Mutation
Retrospective Studies
Sequence Deletion/genetics
[Pt] Publication type:JOURNAL ARTICLE
[Nm] Name of substance:0 (DNA, Mitochondrial)
[Em] Entry month:1711
[Cu] Class update date: 171113
[Lr] Last revision date:171113
[Js] Journal subset:IM
[Da] Date of entry for processing:160401
[St] Status:MEDLINE
[do] DOI:10.3109/13816810.2015.1130153


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