Detection of mitochondrial transfer RNA (mt-tRNA) gene mutations in patients with idiopathic pulmonary fibrosis and sarcoidosis

摘要

Mitochondrial reactive oxygen species production may lead to tissue injury associated with two respiratory disorders of unknown origin which are shared by common tissue fibrosis, IPF and sarcoidosis. Sequence analysis of 22 mt-tRNA genes and parts of their flanking genes revealed 32 and 45 mutations in 38/40 IPF and 69/85 sarcoidosis patients respectively. 4 novel mutations were identified. 15/32 and 25/45 mutations were exclusively expressed while 12/32 and 17/45 mutations predominantly occurred in IPF and sarcoidosis group respectively, compared to healthy controls. Novel mutation combinations were solely expressed in disease. Hence, a mitochondrial-mediated pathogenic pathway seems to underlie both entities.