Essential and toxic element bioaccumulations in fishes of Gala and Siğirci lakes (Meriç River Delta, Turkey)

Meriç River Delta is located in the Thrace Region of Turkey, and it is one of the most important wetlands worldwide. Gala and Sığırcı Lakes, which are known as significant lakes in Turkey in terms of especial biodiversity, are located in the Meriç River Delta and they are the main lentic factors of the system. The aim of this study was to evaluate the essential and toxic element bioaccumulation levels in fishes of Gala and Sığırcı Lakes from a statistical perspective by investigating a total of 25 macro- and micro-element bioaccumulations. One-Way ANOVA Test (OWAT) was applied to detected data in order to determine the statistical differences of element bioaccumulations among the fish species. Cluster analysis (CA) was also applied to detected data in order to classify the investigated elements in terms of bioaccumulation levels in fish tissues. According to the results of OWAT, although statistical differences were not recorded among the fish species in terms of essential element levels, significant statistical differences were recorded in terms of toxic element levels (P<0.05). According to the results of CA, 5 statistically significant clusters were formed, which were named as “Most intense elements”, “Second most intense elements”, “Moderate intense elements”, “Second rarest elements”, and “Rarest elements”. It was also found that toxic element bioaccumulation rates in fishes of Gala Lake were significantly higher than in fishes of Sığırcı Lake (P<0.05)

Key features and clinical variability of COG6-CDG

The conserved oligomeric Golgi (COG) complex consists of eight subunits and plays a crucial role in Golgi trafficking and positioning of glycosylation enzymes. Mutations in all COG subunits, except subunit 3, have been detected in patients with congenital disorders of glycosylation (CDG) of variable severity. So far, 3 families with a total of 10 individuals with biallelic COG6 mutations have been described, showing a broad clinical spectrum. Here we present 7 additional patients with 4 novel COG6 mutations. In spite of clinical variability, we delineate the core features of COG6-CDG i.e. liver involvement (9/10), microcephaly (8/10), developmental disability (8/10), recurrent infections (7/10), early lethality (6/10), and hypohidrosis predisposing for hyperthermia (6/10) and hyperkeratosis (4/10) as ectodermal signs. Regarding all COG6-related disorders a genotype-phenotype correlation can be discerned ranging from deep intronic mutations found in Shaheen syndrome as the mildest form to loss-of-function mutations leading to early lethal CDG phenotypes. A comparison with other COG deficiencies suggests ectodermal changes to be a hallmark of COG6-related disorders. Our findings aid clinical differentiation of this complex group of disorders and imply subtle functional differences between the COG complex subunits