Qatar Foundation Annual Research Forum Volume 2012 Issue 1

The cardiac muscle contraction is regulated by a set of proteins known as sarcomeric proteins, which are components of thick and thin filaments. Mutation in these proteins especially cardiac myosin binding protein-C, a multi-domain (C0-C10) protein, is one of the major causes of hypertrophic cardiomyopathy (HCM). However, structure-function relationship of this protein is unclear. Mutation E258K, which is located in the C-ter Read More

Background and Objectives: Diabetic nephropathy (DN), a serious complication of diabetes, is characterized by hyperfiltration, hypertrophy, extracellular matrix accumulation, fibrosis and proteinuria leading to loss of renal function. In renal hypertrophy, tubules increase in size and cause accumulation of the extracellular matrix, and are also associated with alterations in renal sodium handling as well as hypertension; proc Read More

Background: Although the linkage between germline mutations of BRCA1 and hereditary breast/ovarian cancers is well established, recent evidence suggests that altered expression of wild type BRCA1 might contribute to the sporadic forms of breast cancer. The mechanism underlying the downregulation BRCA1 expression is not well understood. It might be dependent upon repressor activity that governs histone acetylation Read More

Background: Ovarian cancer is the second leading cause of cancer-related death in women worldwide. Despite optimal cytoreduction and adequate adjuvant therapy, many patients will experience disease recurrence. Targeted therapies have been evaluated in ovarian cancer as a method to overcome resistant disease. Antiangiogenic therapy such as bevacizumab (Avastin; Genentech) has limited efficacy. Indeed, it increases Read More

A consanguineous Arab family affected by a novel autosomal recessive disorder characterized by severe mental retardation and failure to thrive, was studied by Illumina 700K SNP genotyping, candidate gene mutation screening and whole exome sequencing for one affected member. Clinical findings include ptosis, bilateral epicanthic folds, striking midface hypoplasia, downturned mouth corners, thin upper vermillion, promine Read More

Background & Objectives: Stein-Leventhal syndrome commonly known as polycystic ovary syndrome (PCOS) is the most common endocrinopathy among reproductive females. PCOS is a multisystem challenge causing not only gynecological issues such as irregular menstrual cycles, hyperandrogenism and infertility but also causing insulin resistance, type 2 diabetes and cardiovascular diseases. The objective of our st Read More

Background: Apolipoprotein E (ApoE), a protein component of blood lipid particles, plays an important role in lipid transport and delivery. Single polymorphisms in residues 112 and 158 define the common E2, E3 and E4 alleles. In a study of Qataris, we observed that 17.4% of the African-derived genetic subgroup were heterozygotes for the rare Arg145Cys (R145C) variant that functions as a dominant trait with incomplete Read More

Objectives: Stroke prevention therapy with oral anticoagulants (OAC) is reported to be under-utilized in patients with atrial fibrillation (AF) despite the overwhelming evidence supporting their use for stroke prevention. Rates and trends of the use of OAC from the developing world in this setting are lacking particularly in elderly patients. The aim of this study is to evaluate trends of utilization of OAC in elderly patients hospitalized Read More

Background: The incidence and prevalence of type 2 diabetes mellitus (T2DM) is on the rise in Qatar. The pathogenesis of T2DM is complex owing to molecular heterogeneity in the afflicted population. Current diagnostic methods rely on blood glucose measurements, which are non-informative with respect to progression of the disease to other associated pathologies. Thus predicting the risk and development of T2DM-related co Read More

Background and Objectives: Hematopoietic stem cells (HSC) are the most widely studied and characterized adult stem cells, which play an essential role in sustaining the formation of blood and immune system. The ease of their manipulation, the lack of serious ethical issues, and, in the autologous setting, the absence of their immunogenicity, have made them an attractive tool for developing stem cell-based therapies. E Read More