Master Discussion
The College of Science for Women at the University of Baghdad discussed a master’s thesis entitled “Association Between the Oculocerebrorenal Syndrome of Lowe Gene Variations with Renal Failure and Kidney Stones in Iraqi Patients”. The thesis was submitted by a student (Shatha Shakir Ahmed) for a master’s degree in Biology/Genetics, under the supervision of Assistant Professor Dr. Luma Hassan Alwan.
The thesis focused on studying variations in the OCRL gene associated with Oculo-cerebro-renal syndrome. The study included 120 participants, divided into 40 healthy individuals (control group), 40 patients with kidney stones, and 40 patients with kidney failure. The study also assessed the effect of the PIP2 enzyme on regulating intracellular calcium balance and its relationship to kidney stone formation and the progression of kidney failure.
The results revealed an A/G variant in exon 15 of the OCRL gene, the first reported in a female patient with kidney failure. Four variants were also found in the intron preceding exon 13 in a 55-year-old male patient also suffering from kidney failure. Measuring PIP2 enzyme levels revealed a significant increase in patients with kidney failure and kidney stones compared to the control group.
The study also included the analysis of biochemical tests for kidney function (creatinine, urea, and uric acid), as well as measuring serum calcium and vitamin D3 levels, and a general urine examination to diagnose crystals in kidney stone patients.
The researcher recommended the need for further studies to expand our understanding of the relationship between metabolic pathways and genetic variations associated with chronic kidney disease.
Excellent
