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5.Duchenne muscular dystrophy

Duchenne muscular dystrophy Duchenne muscular dystrophy (DMD) is a genetic disorder that affects the muscles of the body, leading to progressive weakness and wasting. It is one of the most common forms of muscular dystrophy, affecting approximately 1 in every 3,500 male births worldwide. Causes and Symptoms: DMD is caused by mutations in the dystrophin gene, which provides instructions for making a protein called dystrophin. Dystrophin is an important component of muscle tissue, and its absence or dysfunction leads to muscle degeneration and weakness. Symptoms of DMD typically begin to appear in early childhood, usually around the age of 3-5 years. Children with DMD often have delayed motor milestones, such as walking and running, and may have difficulty getting up from the floor or climbing stairs. As the disease progresses, muscle weakness and wasting become more pronounced, affecting the arms, legs, and torso. Other common symptoms of DMD include: Frequent falls Difficulty standing ...
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8.BRCA1/BRCA2 gene mutations (increasing the risk of breast and ovarian cancer)

 BRCA1/BRCA2 gene mutations Breast cancer and ovarian cancer are two of the most common types of cancer that affect women. While many factors contribute to the development of these diseases, genetics plays a significant role. Mutations in the BRCA1 and BRCA2 genes have been identified as one of the main genetic risk factors for breast and ovarian cancer. In this blog post, we'll take a closer look at these mutations and how they can impact your health. What are BRCA1 and BRCA2 genes? BRCA1 and BRCA2 are genes that provide instructions for making proteins that suppress tumor growth. These proteins help repair damaged DNA and prevent cells from growing and dividing too rapidly or in an uncontrolled way. When these genes are functioning normally, they can help protect against the development of cancer. However, certain mutations in the BRCA1 and BRCA2 genes can disrupt their ability to suppress tumor growth. These mutations can be inherited from either parent and increase the risk of ...
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1. Cystic fibrosis

Cystic fibrosis Cystic fibrosis (CF) is a genetic, chronic, and progressive disease that affects the respiratory, digestive, and reproductive systems. It is caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene, which produces a protein responsible for regulating the movement of salt and water across cell membranes in various organs of the body. Normally, CFTR protein helps maintain the balance of salt and water in the linings of organs such as the lungs, pancreas, liver, and reproductive tract. However, in individuals with CF, the mutated CFTR protein is either absent, dysfunctional, or reduced in quantity, resulting in the production of thick, sticky mucus that can clog the airways, ducts, and passages in these organs. Respiratory symptoms are usually the most prominent in CF, including persistent coughing, frequent lung infections, difficulty breathing, and reduced lung function over time. The thick mucus in the lungs provides a breeding ground f...
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