[P1-144] Study of Mitochondrial A3243G in Blood and Urine Samples of Patients with Mitochondrial Encephalopathy Lactic Acidosis Stroke Like Episodes
[Introduction]
Detection of mt A3243G point mutation in patients with mitochondrial encephalopathy lactic acidosis stroke like episodes (MELAS) was usually from blood and muscle samples. The aim of this study was to use the urine sample for determining the gene mutation and ratio of A3243G point mutation.
[Methodology]
Four cases diagnosed with MELAS carrying mt A3243G point mutation in blood samples and their mothers were recruited. The first morning urine sample of 50ml was collected by a clean tube, which was centrifuged at 1000rpm for 10 minutes to collect the urinary epithelial cells. We compared the ratio of mt A3243G point mutation in two types of samples. The mt A3243G point mutation in blood and urine DNA was analyzed by polymerase chain reaction (PCR) and Sanger sequencing. The ratio of A3243G mtDNA was determined using quantitative real time PCR.
[Results]
Patients 1, 2, 3, and 4 exhibiting A3243G mutation ratio in the blood and urine samples were 43.1% and 100%, 79.5% and 100%, 16.5% and 100%, and 35.4% and 100%, respectively. The mothers of patients 1, 2, 3, and 4 were 0% and 0%, 11% and 64.1%, 0% and 10.9%, and 8.2% and 76.5%, respectively. The mother of patient 3 showed no gene mutation in the blood, but a positive gene mutation in the urine.
[Conclusions]
The detection rate of A3243G point mutation and ratio of mutation was higher in the urine sample. Urine sample should be included in the gene analysis of patients with suspected MELAS and their family.
Detection of mt A3243G point mutation in patients with mitochondrial encephalopathy lactic acidosis stroke like episodes (MELAS) was usually from blood and muscle samples. The aim of this study was to use the urine sample for determining the gene mutation and ratio of A3243G point mutation.
[Methodology]
Four cases diagnosed with MELAS carrying mt A3243G point mutation in blood samples and their mothers were recruited. The first morning urine sample of 50ml was collected by a clean tube, which was centrifuged at 1000rpm for 10 minutes to collect the urinary epithelial cells. We compared the ratio of mt A3243G point mutation in two types of samples. The mt A3243G point mutation in blood and urine DNA was analyzed by polymerase chain reaction (PCR) and Sanger sequencing. The ratio of A3243G mtDNA was determined using quantitative real time PCR.
[Results]
Patients 1, 2, 3, and 4 exhibiting A3243G mutation ratio in the blood and urine samples were 43.1% and 100%, 79.5% and 100%, 16.5% and 100%, and 35.4% and 100%, respectively. The mothers of patients 1, 2, 3, and 4 were 0% and 0%, 11% and 64.1%, 0% and 10.9%, and 8.2% and 76.5%, respectively. The mother of patient 3 showed no gene mutation in the blood, but a positive gene mutation in the urine.
[Conclusions]
The detection rate of A3243G point mutation and ratio of mutation was higher in the urine sample. Urine sample should be included in the gene analysis of patients with suspected MELAS and their family.