Seizures in myoclonic epilepsy with ragged-red fibers detected by DNA analysis: a case report.

A 19-year-old Thai woman presented with progressive ataxia and generalized tonic-clonic seizures. Later on, she developed status epilepticus. Blood was tested by molecular DNA analysis which showed A8344G mitochondrial DNA mutation associated with myoclonic epilepsy with ragged-red fibers (MERRF). We confirmed this finding in other members of this family. This is an interesting case report in Thailand of MERRF identified to have A-->G transition mutation at nucleotide 8344 of mitochondrial tRNA(lys) gene without ragged-red fibers from histopathologic studies of muscle. Molecular genetic analysis in suspicious cases of mitochondrial disorders is necessary for proper management and genetic counseling.

Experience of ApoE study in Thai elderly.

The association between ApoE E4 and dementia is reported in Alzheimer's disease and other dementia such as in multi-infarct dementia. OBJECTIVES: To examine the association between apolipoprotein E genotype (ApoE) and dementia in Thai elderly and patients to examine the alleles frequencies of ApoE in a Thai population. MATERIAL AND METHOD: Seventy-eight cases and ninety-four controls from a community based population were recruited. Their ages were all over 50 years. Dementia was diagnosed by DSM IV criteria. Blood was taken and stored for DNA extraction and for restriction enzyme analysis of ApoE genotype. Descriptive analysis and odds ratios from SPSS 9.0 program were used in this study. RESULTS: Alleles frequencies of ApoE E2, E, E4 in normal controls were 0.03, 0.80, 0.17 and alleles frequencies of ApoE E3, E4 in dementia subjects were 0.71 and 0.29, respectively. Odds ratios for dementia risk of apolipoprotein genes were as follows: 0.62 for ApoE E3 and 1.98 for ApoE E4. In this study, forty-two dementia subjects had Alzheimer's disease. Fifty nine point five per cent of Alzheimer's disease subjects carried ApoE E4 (positive predictive value is 0.60). CONCLUSION: Thai elderly carry ApoE genotype distribution similar to that reported in other ethnic groups. Bearing ApoE E4 gene increases the risk of developing dementia. The use of ApoE genotyping can only be a diagnostic adjunct for Alzheimer's disease.

Leber's hereditary optic neuropathy (LHON) with mitochondrial ND4 gene mutation (11778) in a Thai patient.

Leber's hereditary optic neuropathy (LHON) is a maternally transmitted disease, characterized by bilateral optic atrophy predominantly in healthy young males. This disorder has shown to be associated with DNA mutation in mitochondrial genome of the patients. We report here a young man who came to the hospital with subacute visual loss in one eye, followed by the other eye within two months. His echocardiogram was normal. A G-->A base substitution at nucleotide position 11,778 which changes a conserved arginine to histidine at amino acid position 340 of ND4, a protein subunit of respiratory chain enzyme complex I in oxidative phosphorylation system, was detected in his leucocyte mitochondrial genome.

Mitochondrial genome analysis in Kearns-Sayre syndrome.

We analysed the mitochondrial genome of one patient with chronic and progressive bilateral ophthalmoplegia. This patient also had abnormal EKG showing cardiac conduction defects and pigmentary retinopathy, suggestive of the Kearns-Sayre syndrome. On muscle biopsy, with Gomori trichrome stain, the fibers showed an increase in red-staining material in the intermyofibrillary network and the subsarcolemmal region. On electron microscopy, aggregations of abnormal mitochondria were demonstrated, confirming the diagnosis of mitochondrial myopathy. Analysis of mitochondrial DNA (mtDNA) from the patient and her mother showed no deleted mtDNA.

Molecular examination of GH gene deletion in familial growth hormone deficiency.

The human growth hormone gene (GH gene) from nine members of a family with familial growth hormone deficiency was examined. The patients were diagnosed as having growth hormone deficiency clinically and by response to hormonal treatment. PCR amplification was carried out using total DNA extracted from leukocytes. The flanking regions of the GH gene which are highly homologous were amplified by one pair of primers. PCR products of 1900 bp and 1919 bp were obtained. By using the combination of restriction enzymes BgII, HaeII and SmaI to digest these PCR products, the various sizes of GH gene deletion can be detected. None of the possible deletions was found in these patients and their relatives by either PCR or Southern blot analysis.

Lactate and sports.

Blood lactate level was determined in two groups of athletes consisting of 12 male runners and 13 male swimmers. Before their performances, blood lactate level was 1.51 + 0.35 mM/L and within 5 minutes after 400 metre speedy running and 100 metre speedy swimming the levels had risen to 13.07 + 2.98 and 12.71 + 2.11 mM/L. Blood lactate level decreased within 30 minutes after exercise and the level were analysed under 3 different resting condition: oxygen inhalation, normal saline solution ingestion, and normal resting, were 5.68 + 1.49, 5.26 + 1.68, and 6.3 + 1.63 mM/L, respectively. There was no statistically significant difference in blood lactate level between the two groups of athletes, and among the three condifions of resting. These data suggest that workload done by 400 metre speedy running is equivalent to 100 metre speedy swimming. Oxygen inhalation or saline solution ingestion after exercise does not cause any better benefit to blood lactate removal than normal resting.