Genetics of Parkinson’s disease risk Risk for Parkinson’s disease is influenced by genetics. In fact, the disease is associated with genetic variants (differences) in many genes. Two of the best studied genes associated with Parkinson’s disease are called LRRK2 and GBA. There are other genes and variants that have also been linked to Parkinson’s disease,… Continue reading Parkinson’s Disease
Hereditary Thrombophilia & Genetics
Genetics of Hereditary Thrombophilia Hereditary thrombophilia is genetic. The two most common genetic variants (differences) linked to hereditary thrombophilia are found in two genes, called F5 and F2. These genes are important in the normal clotting process. But the F5 variant (sometimes called factor V Leiden) and the F2 variant increase the risk of developing… Continue reading Hereditary Thrombophilia & Genetics
Hereditary Hemochromatosis & Genetics
Is hereditary hemochromatosis genetic? Yes. Hereditary hemochromatosis is a genetic condition. Most cases of hereditary hemochromatosis are due to variants in the HFE gene, although variants in other genes have also been found. Hereditary hemochromatosis affects many people Hereditary hemochromatosis is one of the most common genetic diseases in the U.S. It is estimated that… Continue reading Hereditary Hemochromatosis & Genetics
TTR-Related Hereditary Amyloidosis
Is TTR-Related Hereditary Amyloidosis Genetic? Yes,TTR-related hereditary amyloidosis is genetic. It is caused by genetic variants (differences) in the TTR gene. However, TTR-related hereditary amyloidosis is not the only cause of amyloidosis. There are other forms of hereditary amyloidosis that are caused by genetic variants in other genes. In addition, some people develop TTR-related amyloidosis… Continue reading TTR-Related Hereditary Amyloidosis
G6PD Deficiency & Genetics
Is G6PD deficiency genetic? G6PD deficiency is a genetic condition involving a gene called G6PD. The G6PD gene contains instructions for making an enzyme that plays a role in protecting red blood cells against damage. Certain genetic variants (differences) in the G6PD gene reduce the levels or activity of the enzyme. This can lead to… Continue reading G6PD Deficiency & Genetics
Familial Hypercholesterolemia & Genetics
Is FH genetic? Yes. FH is one of the most common genetic conditions. FH is linked to variants (differences) in multiple genes. Two of these genes are called APOB and LDLR. There are over 1,000 genetic variants known to be associated with FH. FH is serious, and many don’t know they have it. Most people… Continue reading Familial Hypercholesterolemia & Genetics
Bunions
What is a bunion? A bunion is a bony bump on the joint at the base of the big toe. For some people bunions aren’t bothersome, but for others bunions may cause pain on the surface of the bunion or within connected parts of the foot. What causes bunions? Bunions are often formed when the… Continue reading Bunions
Bitter Taste
Why are some people more prone to sensing bitter tastes? Taste buds are covered with tiny molecular sensors, called “taste receptors,” that specialize in detecting the five basic tastes: sweet, salty, sour, bitter, and umami (a savory, meat-like taste). The types of taste receptors you have determine what tastes you can, or cannot, detect in… Continue reading Bitter Taste
Celiac Disease
Is celiac disease genetic? Genetics play a role in celiac disease. Variants (differences) in two genes can influence the risk of developing celiac disease. These genes are called HLA-DQA1 and HLA-DQB1, and they help the immune system respond to invaders such as viruses and bacteria. Other factors related to celiac disease In people with a… Continue reading Celiac Disease
Alpha-1 Antitrypsin Deficiency
Is AAT deficiency genetic? Yes. AAT deficiency is caused by genetic variants (differences) in the SERPINA1 gene. The SERPINA1 gene contains instructions for making a protein called alpha-1 antitrypsin (AAT). This protein is made in the liver and is transported to the lungs where it helps protect lungs from damage. Certain genetic variants in the… Continue reading Alpha-1 Antitrypsin Deficiency
