Characterization of 2-deoxy-D-glucose uptake in fibroblast cultures derived from patients with A3243G mitochondrial DNA mutation.

We investigated cellular glucose uptake of fibroblast cultures derived from seven patients with mitochondrial DNA (mtDNA) A3243G mutation and from six healthy controls with no mtDNA mutations. Heteroplasmy of fibroblast cultures were shifted by culturing for 5 days in galactose-containing medium. The proportion of mutant mtDNA decreased by 7.7% to 10% in three patient fibroblast cultures, whereas 2-deoxy-D-glucose uptake increased 1.8-2.1-fold at basal state, 1.9-2.3-fold in the presence of 60 ng/ml of insulin, and 1.8-2.1-fold in 100 ng/ml of insulin. No significant changes in level of heteroplasmy or glucose uptake were observed in the other patients samples and control samples. This study showed that alteration in the proportion of fibroblast mtDNA A3243G mutation content directly affected basal and insulin-stimulated glucose uptake.

Oculopharyngodistal myopathy in a Thai family.

There has been controversy whether oculopharyngodistal myopathy (OPDM) commonly seen in Japan is a distinct disease entity or a variant of oculopharyngeal muscular dystrophy (OPMD) initially described in French-Canadians and has since been reported in other ethnic groups. Both diseases have autosomal dominant inheritance and OPDM patients are clinically similar to OPMD with slowly progressive ptosis, ophthalmoplegia and dysphagia except that most of the former usually have distal as opposed to proximal weakness and most of them are genetically different from the latter The authors report here 2 siblings with clinical features of OPDM. This entity is rare outside Japan and this is the first family to be reported from Thailand

Case report: A Thai patient with Leber's hereditary optic neuropathy linked to mitochondrial DNA 14484 mutation.

A young Thai male presented with bilateral visual loss and disc pallor. The 14484 mutation responsible for Leber's hereditary optic neuropathy (LHON) was identified on blood mitochondrial analysis. His visual loss was more severe than the visual loss described in Caucasian and Japanese patients and showed no improvement. He had no other identifiable mutations related to LHON nor any associated neurological disorder. This is the first case report of LHON with the 14484 mutation in a Thai patient.

Serum ceruloplasmin in wilson’s disease.

Wilson’s disease is a rare inherited disease with an incidence of 1:50,000 to 1:1,000,0001. The mode of transmission of this disease is an autosomal recessive. The defects of the disease involve both an impairment in biliary copper excretion and a decreased incorporation of free copper into ceruloplasmin due to a low level or abnormal function of this alpha 2-globulin. The toxic accumulation of copper damages many tissues especially basal ganglia of brain and liver. The diagnosis of this disease is made from the family history, signs and symptoms especially from the damaged organs, the detection of Kayser-Fleischer ring, a copper deposit in cornea and the decreased level of serum ceruloplasmin below 20 mg/ml which is normally found in more than 95% of cases. In this study, we analysed the levels of serum ceruloplasmin from 23 cases of Wilson’s disease admitted in Siriraj Hospital from 1989-1998. The average value, (X+1 SD), of 1.38+3.55 mg/ml was significantly lower when compared with the value of 20.82+3.63 mg/ml from 46 normal controls. The cut off level of ceruloplasmin for Wilson’s disease in Thai patients from this study was estimated to be 13 mg/ml which is lower than the level of 20 mg/ml in standard textbook. Twenty two out of 23 cases of Wilson’s disease (95.65%) had serum ceruloplasmin levels less than 13 mg/ml while 1 out of 23 cases (4.35%) had normal level. The data strongly supported the usefulness of serum cerloplasmin analysis in the diagnosis of Wilson’s disease.

Mitochondrial genetics of mitochondrial diseases in Thailand.

Mitochondrial diseases are a heterogenous group of disorders with various biochemical defects in the oxidative phosphorylation system. They are included in the differential diagnosis of many cases of multisystem disease even though the neuromuscular and central nervous system are mainly involved. The complexity of the disease can make it difficult for the clinician to diagnose. The number of the patients suffered from Mitochondrial disease is expected to be increasingly found each year. We present here the mitochondrial diseases with their underlying molecular genetics in the mitochondrial DNA found in Thai patients.