Integrated stress response in Behçet disease: expression analyses in peripheral blood and synovial monocytes.

Behçet disease (BD) is a chronic, relapsing inflammatory disorder, and human leukocyte antigen (HLA)-B*51 is considered to be the strongest genetic susceptibility factor. The integrated stress response (ISR), defined by the eIF2α/ATF4 axis, is a signaling network that maintains protein homeostasis and regulates innate immunity in eukaryotic cells; pathological activation of this pathway can affect the immune response and cause various diseases. In this study, we aimed to investigate the role of the ISR signaling pathway in the pathogenesis of BD.

Upregulation of SPINK2 in acute myeloid leukemia.

Objectives: Acute myeloid leukemia (AML) is a highly heterogeneous disease. Although patients can be classified into risk groups based on their genetic changes, the prognosis of disease within these categories varies widely. This situation raises the need to search for new molecular markers related to AML.

Mitochondrial mutations in patients with congenital heart defects by next generation sequencing technology.

It has been shown that mitochondrial deoxyribo nucleic acid mutations may play an important role in the development of cardiomyopathy, and various types of cardiomyopathy can be attributed to disturbed mitochondrial oxidative energy metabolism. Several studies have described many mutations in mitochondrial genes encoding for subunits of respiratory chain complexes. Thus, recent studies confirm that pathologic mitochondrial deoxyribo nucleic acid mutations are a major reason of diseases and determining them by next-generation sequencing will improve our understanding of dysregulation of heart development.

A novel ATP8 gene mutation in an infant with tetralogy of Fallot.

We report the case of a novel mitochondrial DNA mutation in the MT-ATP8 gene in an infant with tetralogy of Fallot. Next-generation sequencing was applied to sequence whole mitochondrial DNA of the patient. A known Leber's hereditary optic neuropathy-associated mutation (G9804A), a heteroplasmic T7501C mutation (17%), and a novel C8481 T Pro > Leu missense mutation in the MT-ATP8 gene was identified.