Maternally inherited Birk Barel mental retardation dysmorphism syndrome caused by a mutation in the genomically imprinted potassium channel KCNK9

We describe a maternally transmitted genomic-imprinting syndrome of mental retardation, hypotonia, and unique dysmorphism with elongated face. We mapped the disease-associated locus to ~7.27 Mb on chromosome 8q24 and demonstrated that the disease is caused by a missense mutation in the maternal copy of KCNK9 within this locus. KCNK9 is maternally transmitted (imprinted with paternal silencing) and encodes K_2P9.1, a member of the two pore-domain potassium channel (K_2P) subfamily. The mutation fully abolishes the channel's currents—both when functioning as a homodimer or as a heterodimer with K_2P3.1.     

Aflatoxin B<Subscript>1</Subscript> in chilies from the Punjab region,Pakistan

The occurrence of aflatoxin B1 (AFB1) in chilies from Pakistan was determined by using HPLC in work undertaken in Pakistan. Whole (n = 22) and powdered (n = 22) chilies were analyzed. Sixteen (73.0%) and 19 (86.4%) samples of whole and ground chilies, respectively, were contaminated. The mean concentration in powdered chilies (32.20 μg/kg) was higher statistically than in whole chilies (24.69 μg/kg). Concentrations ranged from 0.00 to 89.56 μg/kg for powdered chilies, compared with 0.00–96.3 μg/kg for whole chilies. The limits of detection and quantification were 0.05 μg/kg and 0.53 μg/kg, respectively. The concentrations were high in general and greater than the statutory limit set by the European Union. There is considerable scope for improvements in chili production in Pakistan.     

Aflatoxin concentrations in chilies vary depending on variety

Aflatoxin (AF) contamination was determined in 40 chili samples, representing 3 varieties from Punjab, Pakistan, by HPLC with fluorescence detection. Total AF were determined in varieties Longi (n = 15), Wonder hot (n = 12), and Skyline 1 (n = 13), and the concentrations were high in some samples. AF were detected in 9 (60%), 8 (67%), and 7 (54%) of Longi, Wonder hot, and Skyline 1 samples, respectively; concentration ranged from 4.7 to 34.6, 1.0 to 14.3, and 7.8 to 15.6 μg/kg, respectively. The percentage of samples greater than the European Union statutory limit for AFB₁ and total AF in spices were 53% and 53%, 53% and 8%, and 53% and 38% for Longi, Wonder hot, and Skyline 1, respectively. Significant differences at α < 0.05 between mean concentration of AF in Longi (15.9 ± 0.6 μg/kg) and Wonder hot (5.8 ± 0.3 μg/kg) were determined. In conclusion, choosing the variety demonstrating the lowest AF concentration from various chili samples will assist in improving product quality. This preferred variety is Wonder Hot as described herein.