EEF1G, ITM2C, FTL, CLPTM1L, and CYBA possible candidate genes were identified in this study which may be associated with myelomagenesis.

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.

No abstract

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. To analyse mitochondrial deoxyribo nucleic acid mutations, the entire mitochondrial deoxyribo nucleic acid was amplified in two overlapping polymerase chain reaction fragments from the cardiac tissue of the 22 patients with congenital heart disease, undergoing cardiac surgery. Mitochondrial deoxyribo nucleic acid was deep sequenced by next-generation sequencing. A total of 13 novel mitochondrial deoxyribo nucleic acid mutations were identified in nine patients. Of the patients, three have novel mutations together with reported cardiomyopathy mutations. In all, 65 mutations were found, and 13 of them were unreported. This study represents the most comprehensive mitochondrial deoxyribo nucleic acid mutational analysis in patients with congenital heart disease.

The present study analyzed the spatiotemporal changes of Ostracoda fauna in eight coastal lagoons in the Enez-Evros delta (Tuzla Lake 1, Tuzla Lake 2, Tuzla Lake 3, Taz, Işık, Dalyan, Kuvalak, and Taşaltı), located along the northern Aegean Sea coastline of Turkey. Recent ostracod samples collected from the eight lagoons were analyzed, and 16 living ostracod species (belonging to 14 genera) were identified during the sampling periods. The most abundant species were found to be Cyprideis torosa and Loxoconcha elliptica. C. torosa, a cosmopolitan and opportunistic species of Ostracoda, was found in all the studied coastal lagoons. All ostracod species determined in the lagoons were grouped into three assemblages: Group 1: halophilic continental freshwater species (F. fabaeformis, C. vidua, D. stevensoni, E. virens, H. salina, I. biplicata, I. bradyi, L. inopinata, and S. aculeata); Group 2: euryhaline and typical brackish water species (C. torosa and L. elliptica); Group 3: marine (coastal: A. convexa, L. rhomboidea, C. elongata, and X. communis) and brackish (lagoonal: L. lacertosa) water species. These species of Ostracoda were shown to be affected by environmental conditions. Analyses with the physicochemical variables and species (Spearman’s rank correlation coefficient and Canonical Correspondence Analysis) confirmed that ostracod distribution in the Enez lagoons are controlled by seawater–freshwater inputs and by salinity. The purpose of this work is about to present data about of the Enez lagoons, and analyze the diversity of ostracods of them.