Prognosis of symptomatic patients with the A3243G mutation of mitochondrial DNA
The clinical analyses and prognoses of mitochondrial diseases with A3243G mutation are rarely documented in Taiwan. Our study investigated the clinical phenotypes and the outcomes of patients with mitochondrial disease and the A3243G mutation of mtDNA in a Taiwanese population, and compared these wi...
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doaj-fecb3948b87b4080a61b1a8c898c74662020-11-24T22:53:44ZengElsevierJournal of the Formosan Medical Association0929-66462012-09-01111948949410.1016/j.jfma.2011.06.014Prognosis of symptomatic patients with the A3243G mutation of mitochondrial DNAChi-Hung Liu0Chien-Hung Chang1Hung-Chou Kuo2Long-Sun Ro3Chia-Wei Liou4Yau-Huei Wei5Chin-Chang Huang6Department of Neurology, Chang Gung Memorial Hospital, Linkou branch, Taoyuan, TaiwanDepartment of Neurology, Chang Gung Memorial Hospital, Linkou branch, Taoyuan, TaiwanDepartment of Neurology, Chang Gung Memorial Hospital, Linkou branch, Taoyuan, TaiwanDepartment of Neurology, Chang Gung Memorial Hospital, Linkou branch, Taoyuan, TaiwanDepartment of Neurology, Chang Gung Memorial Hospital, Kaohsiung branch, TaiwanDepartment of Medicine, Mackay Medical College, Taipei, TaiwanDepartment of Neurology, Chang Gung Memorial Hospital, Linkou branch, Taoyuan, TaiwanThe clinical analyses and prognoses of mitochondrial diseases with A3243G mutation are rarely documented in Taiwan. Our study investigated the clinical phenotypes and the outcomes of patients with mitochondrial disease and the A3243G mutation of mtDNA in a Taiwanese population, and compared these with previous reports. Methods: We retrospectively studied 22 consecutive patients with mitochondrial disease and the A3243G mutation of mtDNA in Chang Gung Memorial Hospital between 1988 and 2009. All patients underwent a detailed demographic registration, neurological examinations, a muscle biopsy, and mitochondrial DNA analysis. Modified Rankin scale, the presence of recurrent strokes or seizures, critical medical complications, and death were monitored during the follow-up period. Results: Of the 22 patients, seizures and stroke-like episodes were found in 12 (55%). Visceral involvement, including cardiomyopathy, nephropathy, and pulmonary hypertension, were noted in five patients (23%). Patients with seizures had a high frequency of status epilepticus (92%) and a younger age of onset (21.3±7.2 years). Both the Kaplan–Meier survival analysis and the Cox-regression model showed a marked deterioration in patients with seizures after 7 years of follow-up. Conclusion: Our study found that seizures and status epilepticus are the most important predictive values for a poor outcome in patients with the mtA3243G mutation of mtDNA. Age of onset and visceral organ involvement had no prominent influence on the prognosis. Some medical complications could be well controlled or even reversed after management.http://www.sciencedirect.com/science/article/pii/S092966461200054XA3243G mutationMELASmitochondrial diseasemitochondrial DNAprognosisseizuresTaiwanese |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Chi-Hung Liu Chien-Hung Chang Hung-Chou Kuo Long-Sun Ro Chia-Wei Liou Yau-Huei Wei Chin-Chang Huang |
spellingShingle |
Chi-Hung Liu Chien-Hung Chang Hung-Chou Kuo Long-Sun Ro Chia-Wei Liou Yau-Huei Wei Chin-Chang Huang Prognosis of symptomatic patients with the A3243G mutation of mitochondrial DNA Journal of the Formosan Medical Association A3243G mutation MELAS mitochondrial disease mitochondrial DNA prognosis seizures Taiwanese |
author_facet |
Chi-Hung Liu Chien-Hung Chang Hung-Chou Kuo Long-Sun Ro Chia-Wei Liou Yau-Huei Wei Chin-Chang Huang |
author_sort |
Chi-Hung Liu |
title |
Prognosis of symptomatic patients with the A3243G mutation of mitochondrial DNA |
title_short |
Prognosis of symptomatic patients with the A3243G mutation of mitochondrial DNA |
title_full |
Prognosis of symptomatic patients with the A3243G mutation of mitochondrial DNA |
title_fullStr |
Prognosis of symptomatic patients with the A3243G mutation of mitochondrial DNA |
title_full_unstemmed |
Prognosis of symptomatic patients with the A3243G mutation of mitochondrial DNA |
title_sort |
prognosis of symptomatic patients with the a3243g mutation of mitochondrial dna |
publisher |
Elsevier |
series |
Journal of the Formosan Medical Association |
issn |
0929-6646 |
publishDate |
2012-09-01 |
description |
The clinical analyses and prognoses of mitochondrial diseases with A3243G mutation are rarely documented in Taiwan. Our study investigated the clinical phenotypes and the outcomes of patients with mitochondrial disease and the A3243G mutation of mtDNA in a Taiwanese population, and compared these with previous reports.
Methods: We retrospectively studied 22 consecutive patients with mitochondrial disease and the A3243G mutation of mtDNA in Chang Gung Memorial Hospital between 1988 and 2009. All patients underwent a detailed demographic registration, neurological examinations, a muscle biopsy, and mitochondrial DNA analysis. Modified Rankin scale, the presence of recurrent strokes or seizures, critical medical complications, and death were monitored during the follow-up period.
Results: Of the 22 patients, seizures and stroke-like episodes were found in 12 (55%). Visceral involvement, including cardiomyopathy, nephropathy, and pulmonary hypertension, were noted in five patients (23%). Patients with seizures had a high frequency of status epilepticus (92%) and a younger age of onset (21.3±7.2 years). Both the Kaplan–Meier survival analysis and the Cox-regression model showed a marked deterioration in patients with seizures after 7 years of follow-up.
Conclusion: Our study found that seizures and status epilepticus are the most important predictive values for a poor outcome in patients with the mtA3243G mutation of mtDNA. Age of onset and visceral organ involvement had no prominent influence on the prognosis. Some medical complications could be well controlled or even reversed after management. |
topic |
A3243G mutation MELAS mitochondrial disease mitochondrial DNA prognosis seizures Taiwanese |
url |
http://www.sciencedirect.com/science/article/pii/S092966461200054X |
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