Naslov
A pilot study of mitochondrial DNA point mutation A3243G in a sample of Croatian patinets having type 2 diabetes mellutus associated with maternal inheritance

Autori
Martin-Kleiner, Irena ; Pape-Medvidović, Edita ; Pavlić-Renar, Ivana ; Metelko, Željko ; Kušec, Rajko ; Gabrilovac, Jelka ; Boranić, Milivoj

Izvornik
Acta diabetologica (0940-5429) 41 (2004), 1; 179-184

Vrsta, podvrsta i kategorija rada
Radovi u časopisima, članak, znanstveni

Ključne riječi
diabetes type 2; MELAS syndrome; mitochondrial DNA mutation A3243G

Sažetak
In this work, patients having type 2 diabetes mellitus and diabetic mothers were tested for the presence of mitochondrial DNA point mutation A3243G. This mutation is associated with the MELAS syndrome (mitochondrial myopathy, encephalopathy, lactic acidosis and stroke like episodes), diabetes and deafness. Twenty-two diabetic persons were screened. DNA was isolated from peripheral blood lymphocytes and from swabs of oral mucosa. The mitochondrial DNA point mutation A3243G was detected using PCR-RFLP test. The mutation was detected in oral mucosal DNA of two patients. One patient was a young man with hearing and visual impairments and proteinuria ; the other was a young woman having proteinuria but no hearing impairment. The mutation was not detectable in oral mucosal DNA from the control persons: 20 diabetic patients having diabetic fathers and 22 healthy, nondiabetic volunteers. The incidence of mitochondrial DNA point mutation A3243G in this study of Croatian diabetic patients is in line with literature data.

Izvorni jezik
Engleski

Znanstvena područja
Temeljne medicinske znanosti

POVEZANOST RADA