👤 Noorhan H Sabri

A single nucleotide polymorphism in the brain derived neurotrophic factor (BDNF)-encoding gene leads to diminished BDNF signaling resulting from Val66Met and has been linked to obesity. Previous imaging studies regarding the impact of BDNF Val66Met on the central serotonin system, which is involved in behavior, cognition and control of satiety, have not focused on body weight or food-intake related behavior. We revisited a cohort of thirty non-depressed individuals with obesity and 15 normal-weight controls. 29 obese and 13 controls underwent [ Show less

Lipoprotein lipase (LPL) is a key enzyme that hydrolyzes triglycerides (TGs) into free fatty acids. Several genetic variants of LPL are directly or indirectly associated with variations in lipid levels, causing different lipid metabolic disorders. Previous studies on the LPL gene have shown that exons and introns are essential for gene expression and regulation. However, mechanisms through which introns regulate gene expression and function remain unclear. In this study, we successfully designed a protocol to assess the function of LPL intron 3 in LPL regulation. This was accomplished by constructing luciferase reporter vectors, containing full and partial intron 3 fragments from a healthy human DNA sample. These recombinant constructs facilitated the analysis of transcriptional activity using dual-luciferase reporter assays in cell lines. The results showed that the luciferase activity of the chimeric firefly luciferase reporter construct containing the full-length LPL intron 3 was higher than that of other constructs. In this study, a successful protocol was developed to assess the function of LPL intron 3 in regulation of the LPL gene. This protocol provides a novel method for functional analysis of introns and intronic variants that can be applied to other genes. Show less

Background Polymorphisms in the low-density lipoprotein receptor (LDLR) and apolipoprotein B 100 (APOB-100) genes have been linked to severe hypercholesterolemia in several populations. This study investigated the frequency of LDLR-Ava II and APOB-Xba I polymorphisms among Kurdish patients with severe hypercholesterolemia. Methodology We investigated LDLR-Ava II and APOB-Xba I gene polymorphisms in Kurdish patients attending the Duhok Specialized Laboratory Center in Duhok, Kurdistan Region, Iraq. We included a total of 80 subjects in this study, of which 40 (20 males and 20 females) had severe hypercholesterolemia, and 40 apparently healthy volunteers (21 males and 19 females) had normocholesterolemia, served as a control group. We used the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) technique to determine the polymorphisms of the LDLR-Ava II and APOB-Xba I genes. Results In those with severe hypercholesterolemia, the observed allele frequencies were AA LDLR-Ava II polymorphism (eight, 20%) followed by TT APOB-Xba I polymorphisms (six, 15%), whereas these frequencies were five (12.5%) and one (2.5%) in those with normocholesterolemia, respectively. The AA genotype group had considerably higher cholesterol and LDL-C levels compared with the GG genotype group. A similar pattern was observed when comparing the TT and CC genotype groups. Conclusions Our results showed a high frequency of AA LDLR-Ava II polymorphism in conjunction with TT APOB-Xba I polymorphism which may be strongly associated with hypercholesterolemia in the Kurdish population. Show less

Lipoprotein lipase (LPL) is a multifunctional protein that catalyzes the hydrolysis of plasma triglycerides, releasing free fatty acids, which play critical roles in the metabolism and transport of lipids. The transcription of Show less