Atypical MELAS syndrome associated with a new mitochondrial tRNA glutamine point mutation

Bataillard, Marc; Chatzoglou, Evanthia; Rumbach, L.; Sternberg, Damien; Tournade, A; Laforêt, Pascal; Jardel, Claude; Maisonobe, Thierry; Lombès, Anne

doi:10.1212/wnl.56.3.405

Cited by 71 publications

(37 citation statements)

References 10 publications

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“…A3243G mutations in the D-loop of (mt)tRNA Leu and A8296G mutation in the accepter stem of (mt)tRNA Lys are associated with Diabetes Mellitus, DeaFness, DMDF [36]. Mostly the variations in (mt)tRNA Leu are linked to MELAS, in an odd case G4332A transition in (mt)tRNA Gln is reported [37]. On the other hand, MERRF has been associated with an A→G transition in the T-loop of the (mt)tRNA Lys gene [38,39].…”

Section: Diseases Associated With (Mt) Trna and (N) Trnamentioning

confidence: 99%

“…In eukaryotes, more than 100 chemically diverse modifications have been identified so far, many of which are conserved among organisms (see MODOMICS database) and between tRNAs encoded in the nuclear or organelle genomes. Generally, positions 9,26,32,34,37,38,48,49,50 of tRNA are affected most by different modifications that ultimately lead to diseases [108]. Conserved modifications across all domains of life underscore their biological importance.…”

Section: Hypotheses On Mechanisms Of Trn-a-rs Link To Diseases and Camentioning

confidence: 99%

See 1 more Smart Citation

tRN-A-RS Acts As Biomarker for Cancer and Other Diseases

Samadder¹,

Mitra²,

Chakraborty³

et al. 2016

J Mol Biomark Diagn

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Section: Diseases Associated With (Mt) Trna and (N) Trnamentioning

confidence: 99%

Section: Hypotheses On Mechanisms Of Trn-a-rs Link To Diseases and Camentioning

confidence: 99%

tRN-A-RS Acts As Biomarker for Cancer and Other Diseases

Samadder¹,

Mitra²,

Chakraborty³

et al. 2016

J Mol Biomark Diagn

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“…Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) is a representative mitochondrial disease. The m.3243A G mutation in MT-TL1 (tRNA Leu (UUR) ) comprises about 80% of cases of MELAS, while some cases of MELAS have an m.4332G A mutation in MT-TQ 24) . The m.3243A G mutation is also associated with diabetes mellitus, and was found in 1% of Japanese type 2 diabetic patients 25) .…”

Section: Haplogroup M7amentioning

confidence: 99%

Mitochondrial Haplogroups A and M7a Confer a Genetic Risk for Coronary Atherosclerosis in the Japanese Elderly: An Autopsy Study of 1,536 Patients

Sawabe

Tanaka

Chida

et al. 2011

JAT

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Motoji Sawabe and Masashi Tanaka equally contributed to this work. Aim:We previously reported significant associations between mitochondrial single nucleotide polymorphisms (mtSNPs) and myocardial infarction, atherothrombotic cerebral infarction, metabolic syndrome and type 2 diabetes. Here, we assessed the hypothesis that mtSNPs may confer a risk for atherosclerosis, the most important intermediate phenotype of ischemic cardiovascular events. Methods: The subjects were 1,536 consecutive autopsy cases (827 men and 709 women). The average age at death was 80 years. The severity of coronary atherosclerosis was semi-quantitatively examined on cut sections. We examined 149 mtSNPs using the PCR-Luminex method, with a success rate of 97%. Phylogenetic tree analysis yielded 36 haplogroups. Multiple logistic regression analysis was performed after adjustments for sex, age, and conventional cardiovascular risk factors. Results: Among the 45 mtSNPs with minor genotype frequencies 0.05, 6 mtSNPs were associated with coronary atherosclerosis. Among 10 haplogroups with frequencies 0.04, haplogroups A and M7a were significantly associated with coronary atherosclerosis, with odds ratios (95% confidence intervals) of 1.80 (1.09-2.97; p 0.023) and 1.92 (1.23-3.01; p 0.004), respectively. Haplogroup D4a, which was previously reported to be associated with extreme longevity in a Japanese population, was associated with pathological myocardial infarction in men with an odds ratio of 2.05 (1.01-4.14; p 0.046). Conclusions:The mitochondrial haplogroups A and M7a confer a significant risk for coronary atherosclerosis in the Japanese. The mitochondrial haplogroup may contribute some genetic risk for coronary heart disease. J Atheroscler Thromb, 2011; 18:166-175.

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“…O estudo radiológico pode revelar atrofia cerebral, cerebelar e de tronco cerebral, calcificações, hidrocefalia ex-vácuo, alterações de sinal na substância branca principalmente periventricular 4,7,8 . No presente caso foram observadas essas alterações.…”

Section: Fig 1 Rm De Crânio Corte Axial T 1 (A) E Flair (B) Revelanunclassified

“…O estudo histopatológico muscular destes pacientes, em geral, demonstra fibras vermelhas rotas rajadas (RRF), porém a sua ausência não invalida o diagnóstico 3,4,8 . Há ainda possibilidade de não haver RRF inicialmente e em outro momento estarem presentes de acordo com a progressão da doença.…”

Section: Fig 1 Rm De Crânio Corte Axial T 1 (A) E Flair (B) Revelanunclassified

Síndrome psicótica evoluindo com demência como manifestação clinica de deleção do DNA mitocondrial

Vasconcellos

Leite

Cavalcanti

et al. 2007

Arq. Neuro-Psiquiatr.

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RESUMO -As manifestações das doenças mitocondriais são variadas, acometendo, mais freqüentemente, órgãos com alto metabolismo aeróbico em que são mais abundantes, como, por exemplo, o sistema nervoso. O início dos sintomas em geral é observado na infância havendo relatos de início na idade adulta. Apresentamos caso atípico de doença mitocondrial associada à deleção do DNA mitocondrial em um homem de 39 anos com sintomas psiquiátricos configuraram quadro clínico inicial e somente 12 anos após o início dos sintomas surgiram alterações neurológicas. O diagnóstico da doença mitocondrial foi confirmado por biópsia de músculo sendo documentada deleção do DNA mitocondrial. PALAVRAS-CHAVE: demência, síndrome psicótica, mitocondriopatia, genética.Psycothic syndrome developing into dementia as a clinical manifestation of mitochondrial DNA deletion ABSTRACT -The manifestations of mitochondrial disease are variable, affecting more frequently the organs with high aerobic metabolism in which they are more abundant, for example the nervous system. The beginning of symptoms in general is observed at chilhood, but some patients presented on adult age. We present an atypical case associated with mitochondrial DNA deletion. A 39-years-old man with psychiatric symptoms that configured initial clinical picture and only after 12 years of the beginning of symptoms neurological alterations became noticeable. The diagnosis of mitochondrial illness was confirmed by muscle biopsy being documented mitochondrial DNA deletion.KEY WORDS: dementia, psychotic syndrome, mitochondriopathy, genetic.As mitocôndrias são estruturas citoplasmáticas que desempenham funções vitais na produção aeró-bica de energia, sendo a única organela das células eucarióticas a possuir DNA próprio, designado DNA mitocondrial (mtDNA). As mitocondriopatias são doenças que ao nível celular se caracterizam por disfunção na produção de energia em forma de adenosina trifosfato (ATP), resultado final da fosforilação oxidativa de glicose, ácidos graxos e aminoácidos pela mitocôndria 1 . A grande variabilidade na expressão clínica desse grupo de doenças se deve não só às importantes funções metabólicas que a mitocôndria desempenha na vida celular, mas também ao número variável de mitocôndrias nos diferentes tecidos e à sua característica particular de conter seu próprio DNA. Os órgãos preferencialmente acometidos nas doenças mitocondriais são aqueles que dependem de metabolismo aeróbico intenso, ou seja, sistema nervoso central e periférico, muscular, ocular, cardía-co, hepático, renal, endócrino, hematopoiético e gastrointestinal 1 . Costuma-se dividir as desordens mitocondriais de acordo com as alterações do DNA em três categorias: deleção única, deleção múltipla, duplicação e mutação de ponto 2 . O diagnóstico das doenças mitocondriais implica uma investigação multidisciplinar que envolve, além da análise molecular, avaliação clínica, o estudo morfológico e o estudo bioquí-mico (estudo das enzimas da cadeia respiratória mitocondrial), preferencialmente realizado em material...

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Atypical MELAS syndrome associated with a new mitochondrial tRNA glutamine point mutation

Cited by 71 publications

References 10 publications

tRN-A-RS Acts As Biomarker for Cancer and Other Diseases

tRN-A-RS Acts As Biomarker for Cancer and Other Diseases

Mitochondrial Haplogroups A and M7a Confer a Genetic Risk for Coronary Atherosclerosis in the Japanese Elderly: An Autopsy Study of 1,536 Patients

Síndrome psicótica evoluindo com demência como manifestação clinica de deleção do DNA mitocondrial

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