Arusha Ayub

Sesame seeds ( Sesamum indicum ) are considered valuable for their nutritional qualities and wide range of uses in several sectors of the global economy. Bioactive substances such as lignans, phytosterols, γ‐tocopherol, phenolic acids, flavonoids, and tryptophan which have strong anti‐inflammatory, lipid‐lowering, and antioxidant properties are present in them. In addition, sesame seeds contribute to human health by offering vital elements like protein, unsaturated fatty acids, vitamins, and minerals. The bioavailability of these nutrients has been enhanced by recent developments in processing technologies and agricultural methods. Apart from the food industry, sesame seeds are also being used extensively in the pharmaceutical, cosmetic, and industrial sectors, such as in the manufacturing of biodiesel and animal feed. This review highlights the potential contribution of sesame seeds to sustainable food systems by compiling the most recent research on their nutritional makeup, health advantages, and variety of uses.

Background and Objectives: Inherited metabolic disorders (IMDs) are a group of genetic disorders characterized by defects in enzymes or transport proteins involved in metabolic processes. These defects result in an abnormal accumulation of metabolites and thus interfere with the body’s metabolism. A variety of IMDs exist and differential diagnosis is often challenging. Our objective was to gain insight into the genetic basis of IMDs and the correlations between specific genetic mutations and clinical presentations in patients admitted at various hospitals in the Madinah region of the Kingdom of Saudi Arabia. Material and Methods: Whole exome sequencing (WES) has emerged as a powerful tool for diagnosing IMDs and allows for the identification of disease-causing genetic mutations in individuals suspected of IMDs. This ensures accurate diagnosis and appropriate management. WES was performed in four families with multiple individuals showing clinical presentation of IMDs. Validation of the variants identified through WES was conducted using Sanger sequencing. Furthermore, various computational analyses were employed to uncover the disease gene co-expression and metabolic pathways. Results: Exome variant data analysis revealed missense variants in the BTD (c.1270G > C), ASL (c.1300G > T), GBE1 (c.985T > G) and AGL (c.113C > G) genes. Mutations in these genes are known to cause IMDs. Conclusions: Thus, our data showed that exome sequencing, in conjunction with clinical and biochemical characteristics and pathological hallmarks, could deliver an accurate and high-throughput outcome for the diagnosis and sub-typing of IMDs. Overall, our findings emphasize that the integration of WES with clinical and pathological information has the potential to improve the diagnosis and understanding of IMDs and related disorders, ultimately benefiting patients and the medical community.