MELAS syndrome with mitochondrial tRNA(Leu(UUR)) gene mutation in a Chinese family.

Huang, Chin‐Chang; Chen, Rou‐Shayn; Chen, Chiung‐Mei; Wang, Huei-Shyong; Lee, Cheng-Chun; Pang, Cheng‐Yoong; Hsu, Hueih-Shing; Lee, Hsin Chen; Wei, Yau‐Huei

doi:10.1136/jnnp.57.5.586

Cited by 48 publications

(30 citation statements)

References 14 publications

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“…The X-ray film was then scanned with a scanning densitometer (Personal Densitometer SI, Molecular Dynamics, Sunnyvale, CA). The proportions of the mutant DNA and wild-type DNA (uncut) fragments were respectively estimated by determining the ratio of their intensities in the negative film [14].…”

Section: Polymerase Chain Reactionmentioning

confidence: 99%

Detection of DNA mutations associated with mitochondrial diseases by Agilent 2100 bioanalyzer

Lu¹,

Tso²,

Yang³

et al. 2002

Clinica Chimica Acta

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Background: Molecular analysis of mitochondrial DNA (mtDNA) has provided a final diagnosis for many of the mitochondrial diseases. We evaluated the Agilent 2100 bioanalyzer (Agilent Technologies, Palo Alto, CA) to determine whether the system could replace the conventional restriction fragment length polymorphism (RFLP) analysis by the agarose gel electrophoresis for the detection of the mtDNA mutation. Methods: Three members of a family with MELAS syndrome and four members of a family with MERRF syndrome were recruited for this study. After PCR and restriction enzyme digestion, DNA fragments were separated on the Agilent 2100 bioanalyzer in conjunction with the DNA 500 and DNA 1000 Labchip kits and by electrophoresis on precast 3% agarose gels. Results: The data generated by the DNA 500 and DNA 1000 assays using the Agilent 2100 bioanalyzer showed a lower percentage error and a better reproducibility as compared to those obtained by the conventional method. Conclusion: Based on the performance of the bioanalyzer, we suggest that this novel Labchip is adequate to replace the current RFLP analysis by the agarose gel electrophoresis for mtDNA mutation detection. D

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Section: Polymerase Chain Reactionmentioning

confidence: 99%

Detection of DNA mutations associated with mitochondrial diseases by Agilent 2100 bioanalyzer

Lu¹,

Tso²,

Yang³

et al. 2002

Clinica Chimica Acta

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“…Moreover, it has been reported that many maternal family members have no clinical symptoms although they harbor either the A3243G or A8344G mutation in mtDNA [5,8,9,16,37]. Because functional impairments may be determined by the degree of heteroplasmy, the proportion of mutant mtDNA is considered to be responsible for the variability of clinical presentations of mitochondrial encephalomyopathies [3,4,37].…”

Section: Introductionmentioning

confidence: 99%

Clinical Phenotype, Prognosis and Mitochondrial DNA Mutation Load in Mitochondrial Encephalomyopathies

et al. 2002

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We studied 42 individuals, including 8 patients with either complete or partial syndrome of mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS), 8 patients with either complete or partial syndrome of myoclonic epilepsy with ragged-red fibers (MERRF) and 26 maternal family members who carried either the A3243G or A8344G mutation of mitochondrial DNA (mtDNA). Clinical manifestations and prognosis were followed up in the patients harboring the A3243G or A8344G mutation. The relationship between clinical features and proportions of mutant mtDNAs in muscle biopsies, blood cells and/or hair follicles was studied. In the 8 regularly followed patients with the A3243G mutation, 4 died within 1 month to 7 years due to status epilepticus and/or recurrent stroke-like episodes. Two patients developed marked mental deterioration and 2 remained stationary. All of the patients harboring the A8344G mutation were stable or deteriorated slightly, except for 1 patient who died due to brain herniation after putaminal hemorrhage. The A3243G and A8344G mtDNA mutations were heteroplasmic in the muscle biopsies, blood cells and hair follicles of both the probands and their maternal family members. The mean proportion of A3243G mutant mtDNA in the muscle biopsies of the patients with MELAS syndrome (68.5 ± 21.3%, range 33–92%) was significantly higher than that of the asymptomatic family members (37.1 ± 12.6%, range 0–51%). The average proportions of A8344G mutant mtDNA in the muscle biopsies (90.1 ± 3.9%, range 89–95%) and hair follicles (93.9 ± 6.4%, range 84–99%) of the patients with MERRF syndrome were also significantly higher than those of the asymptomatic family members (muscle: 40.3 ± 39.5%, range 1–80%; hair follicles: 51.0 ± 44.5%, range 0.1–82%). We concluded that measurement of the proportion of mutant mtDNA in muscle biopsies may provide useful information in the identification of symptomatic patients with mitochondrial encephalomyopathies. For patients with the A3243G mutation, the prognosis was related to status epilepticus and the number of recurrent stroke-like episodes and was much worse than for patients with the A8344G mutation of mtDNA, who had stable or slowly deteriorating clinical courses.

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“…Mutation of mtDNA may interfere with the gene expression of the mitochondrial genome and cause respiratory enzyme deficiency and eventually result in cell dysfunction [5]. A threshold effect has been suggested to determine the presentation of each organ-specific symptom [9]. Therefore, the mtDNA mutation and mitochondrial function defect may also occur in pancreatic β-cells.…”

Section: Introductionmentioning

confidence: 99%

Correction of Pancreatic β-Cell Dysfunction with Coenzyme Q<sub>10</sub> in a Patient with Mitochondrial Encephalomyopathy, Lactic Acidosis and Stroke-Like Episodes Syndrome and Diabetes mellitus

et al. 2000

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MELAS syndrome with mitochondrial tRNA(Leu(UUR)) gene mutation in a Chinese family.

Cited by 48 publications

References 14 publications

Detection of DNA mutations associated with mitochondrial diseases by Agilent 2100 bioanalyzer

Detection of DNA mutations associated with mitochondrial diseases by Agilent 2100 bioanalyzer

Clinical Phenotype, Prognosis and Mitochondrial DNA Mutation Load in Mitochondrial Encephalomyopathies

Correction of Pancreatic β-Cell Dysfunction with Coenzyme Q<sub>10</sub> in a Patient with Mitochondrial Encephalomyopathy, Lactic Acidosis and Stroke-Like Episodes Syndrome and Diabetes mellitus

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