Navegando por Palavras-chave "Mitochondrial disease"

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    Neonatal mitochondrial encephaloneuromyopathy due to a defect of mitochondrial protein synthesis
    (Elsevier B.V., 2008-12-15) Ferreiro-Barros, Claudia Cristina [UNIFESP]; Tengan, Celia Harumi [UNIFESP]; Barros, Mario Henrique de; Palenzuela, Lluis; Kanki, Chisaka; Quinzii, Catarina; Lou, Johanna; El Gharaby, Nader; Shokr, Aly; De Vivo, Darryl C.; DiMauro, Salvatore; Hirano, Michio; Columbia Univ; Universidade Federal de São Paulo (UNIFESP); Universidade de São Paulo (USP); Bugshan Gen Hosp
    Mitochondrial diseases are clinically and genetically heterogeneous disorders due to primary mutations in mitochondrial DNA (mtDNA) or nuclear DNA (nDNA). We studied a male infant with severe congenital encephalopathy, peripheral neuropathy, and myopathy. the patient's lactic acidosis and biochemical defects of respiratory chain complexes I, III, and IV in muscle indicated that he had a mitochondrial disorder while parental consanguinity suggested autosomal recessive inheritance. Cultured fibroblasts from the patient showed a generalized defect of mitochondrial protein synthesis. Fusion of cells from the patient with 143B206 rho(0) cells devoid of mtDNA restored cytochrome c oxidase activity confirming the nDNA origin of the disease. Our studies indicate that the patient has a novel autosomal recessive defect of mitochondrial protein synthesis. (C) 2008 Elsevier B.V. All rights reserved.
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    Visual evoked potentials findings in non-affected subjects from a large Brazilian pedigree of 11778 Leber's hereditary optic neuropathy
    (Springer, 2010-10-01) Sacai, Paula Yuri [UNIFESP]; Salomão, Solange Rios [UNIFESP]; Carelli, Valerio; Pereira, Josenilson Martins [UNIFESP]; Belfort, Rubens [UNIFESP]; Sadun, Alfredo Arrigo; Berezovsky, Adriana [UNIFESP]; Universidade Federal de São Paulo (UNIFESP); Univ Bologna; Keck Univ So Calif
    To investigate pattern-reversal visual evoked potentials (PRVEP) in asymptomatic maternally and non-maternally related members from a large Brazilian 11778/ND4 LHON pedigree. Transient PRVEP for check sizes 15' and 60' were recorded from asymptomatic mutation carriers and non-mutant descendants of affected/non-affected males, all with best-corrected visual acuity of 20/20. A control group of spouses (off-pedigree) was also included. Parameters of N75, P100 and N135 latencies (ms) and N75-P100 peak-to-peak amplitude (mu V) as well as temporal dispersion (latency of N135-latency of N75) were determined. Longitudinal testing was obtained in a subseries of carriers in three annual consecutive visits. We tested 48 asymptomatic mutation carriers, 19 descendants of affected males, 9 descendants of non-affected males and 27 off-pedigrees, all of the latter being non-mutant. All non-mutant male descendants did not differ from off-pedigree controls. Statistically prolonged P100 latencies were found in mutation carriers (P = 0.0143) when compared with off-pedigrees for check sizes 15', as well as significantly larger temporal dispersions for both check size 15' (P = 0.0012) and check size 60' (P = 0.0271). Serial testing in 15 mutation carriers disclosed prolonged P100 latencies and larger temporal dispersion that did not change over time. Subclinical PRVEP abnormalities were detected in this large group of asymptomatic carriers of the 11778/ND4 LHON mutation from the same family, confirming and extending previous psychophysical and structural findings of a selective involvement of the parvocellular pathway. PRVEP is a useful test to characterize and monitor visual dysfunction in this devastating disease.