Study on a pedigree of mitochondrial diabetes with acute pancreatitis

Abstract

Objective To investigate the clinical features and molecular genetic characteristics of mitochondrial diabetes with acute pancreatitis in a pedigree. Methods The clinical data were collected from a family of nine members. The genomic DNA was extracted from the peripheral blood, and the mtDNA3243 mutation was detected. Results There were five diabetic patients having different degrees of hearing impairment, the mean age of onset of diabetes was(32.4±9.2)years old, the average duration of diabetes was(8.2±6.1)years, the mean body mass index was(18.85±1.48)kg/m2, the average fasting plasma C-peptide was(1.07±0.64)ng/ml, and the C-peptide at 120 min was(3.02±1.28)ng/ml. Of these five members, four had osteopenia or osteoporosis, electrocardiograph showed depressed ST segment or ventricular pre-excitation syndrome. Three members were diagnosd with acute pancreatitis at the same time or after the diagnosis of diabetes was made, without any definite etiology. The mtDNA3243A>G mutation was found in 8 members, only one of the paternal offspring(Ⅲ-3)did not have the mutation that conforms to maternal genetic characteristics. Among the 3 carriers with the average age of(11.7±10.3)years old, two cases showed ST segment depression or ventricular pre-excitation syndrome on the electrocardiograph. Conclusion We reported a mitochondrial tRNALeu(UUR)A3243G mutation in the mitochondrial diabetes with acute pancreatitis. Early detection of this mutation is of a certain clinical value, as it may help in timely manangement of those affected, and also aid in better understanding of this mitochondrial gene mutation and the spectrum of mitochondrial diabetes. (Chin J Endocrinol Metab, 2016, 32: 734-738) Key words: Mitochondrion; Gene mutation; Diabetes mellitus; Pancreatitis