Causes of Gaucher disease type 1 Gaucher disease type 1 is caused by variants (differences) in the GBA gene. The GBA gene contains instructions for making an enzyme that breaks down a large, fatty molecule called glucocerebroside into simpler sugars and fats. Certain variants in the GBA gene prevent the enzyme from functioning. This can… Continue reading Gaucher Disease Type 1 & Genetics
Author: Cindy Mui
Tay-Sachs Disease & Genetics
Causes of Tay-Sachs disease Tay-Sachs disease is caused by variants (differences) in the HEXA gene. The HEXA gene contains instructions for making one part of an enzyme called hexosaminidase A. This enzyme helps break down harmful substances within compartments of nerve cells called lysosomes. Certain variants in HEXA disrupt this function, causing a buildup of… Continue reading Tay-Sachs Disease & Genetics
Sickle Cell Anemia & Genetics
Causes of sickle cell anemia Sickle cell anemia is caused by the HbS variant in the HBB gene. The HBB gene contains instructions for making a protein called beta-globin. This protein is part of a larger protein called hemoglobin that is found in red blood cells. Hemoglobin transports oxygen from the lungs to all other… Continue reading Sickle Cell Anemia & Genetics
Phenylketonuria and Related Disorders
Causes of phenylketonuria PKU and related disorders are caused by variants (differences) in the PAH gene. The PAH gene contains instructions for making an enzyme called phenylalanine hydroxylase. This enzyme helps break down an amino acid called phenylalanine, which is found in some foods. Certain variants in PAH disrupt its function, resulting in a harmful… Continue reading Phenylketonuria and Related Disorders
Cystic Fibrosis
What causes cystic fibrosis? Cystic fibrosis is caused by variants (differences) in the CFTR gene. The CFTR gene contains instructions for making a protein that helps control the salt and water balance of certain organs. Certain variants in the CFTR gene prevent the protein from working properly, which can cause the lungs, pancreas, and other… Continue reading Cystic Fibrosis
Beta Thalassemia and Related Hemoglobinopathies
Causes of beta thalassemia Beta thalassemia and related hemoglobinopathies are caused by variants (differences) in the HBB gene. The HBB gene contains instructions for making a protein called beta-globin. This protein is part of a larger protein called hemoglobin that is found in red blood cells. Hemoglobin transports oxygen from the lungs to all other… Continue reading Beta Thalassemia and Related Hemoglobinopathies
Autosomal Recessive Polycystic Kidney Disease
Causes of ARPKD ARPKD is caused by variants (differences) in the PKHD1 gene. The PKHD1 gene contains instructions for making a protein called fibrocystin that is primarily found in the kidneys. Although its exact function is unknown, it is thought to play an important role in the development and function of the kidneys. Certain variants… Continue reading Autosomal Recessive Polycystic Kidney Disease
Cheek Dimples & Genetics
How it works The “smiling muscle” connects each cheekbone with the corners of the mouth. Some people have an extra smiling muscle in their cheeks, which can cause dimples to appear when they smile. The genetic link People used to think dimples came from a single, dominant gene inherited from a parent. Now, researchers know… Continue reading Cheek Dimples & Genetics
Bald Spots & Genetics
How it works Scientists are still uncovering critical information about balding patterns and several studies indicate that testosterone plays an important role. But baldness doesn’t necessarily mean that someone has unusually high or low levels of testosterone; rather, it suggests that the person’s hair follicles respond differently to this hormone. The genetic link 23andMe researchers… Continue reading Bald Spots & Genetics
Back Hair & Genetics
How it works Our hair follicles produce one hair at a time. As hair cells grow from the bottom of the follicle, proteins like keratin help connect and build the cells to form a strand. The genetic link 23andMe researchers found 17 genetic variants that are associated with back hair. But scientists are still investigating… Continue reading Back Hair & Genetics
