Variants can result from DNA copying mistakes made during cell division or certain environmental exposures. A pathogenic variant may also be called a mutation or a disease-causing variant. A pathogenic variant does cause health problems or disease because the change does affect how the gene works. A benign variant does not cause health problems or disease because the change does not affect how the gene works. Sources to Learn More: What is a gene? (MedlinePlus) What's a Gene? (NHGRI) What are proteins and what do they do? (MedlinePlus)Ī genetic variant is a change in a gene's code or DNA sequence that causes the gene to be different than found in most people. DNA is found in the nucleus of a cell and, in humans, is packaged into 23 pairs of chromosomes with the help of special proteins. Cells are the building blocks of all living things and specialized cells form our body's organs and tissues. Sources to Learn More: What is a gene? (MedlinePlus) What's a Gene? (NHGRI) What are proteins and what do they do? (MedlinePlus) Genes are part of our DNA, the basic genetic material found in each of our body's cells. Others make RNA molecules that are involved in chemical reactions in the body. Some genes can turn other genes on or off. Proteins are needed for the structure, function, and regulation of the body's cells, tissues, and organs. Some genes serve as the instructions to make proteins. DNA is found in the nucleus of a cell and, in humans, is packaged into 23 pairs of chromosomes with the help of special proteins.Įach gene performs a different job in our cells. Genes are part of our DNA, the basic genetic material found in each of our body's cells. Estimated Number of People with this Disease It is inherited in an autosomal recessive manner. A more severe form of maevalonate kinase deficiency is known as mevalonic aciduria. The genetic changes result in the partial deficiency of the enzyme. Hyper IgD syndrome is caused by genetic changes in the MVK gene which provides instructions for making the mevalonate kinase enzyme. Growth and development is usually not affected. These attacks can occur spontaneously or be triggered by vaccinations, infections, and/or emotional or physical stress. The frequency of episodes and their severity vary greatly from person to person. Most episodes last several days and occur periodically throughout life. It is considered an auto-inflammatory disease, with recurrent episodic or chronic unexplained inflammation, characterized by periodic episodes of fever, and other symptoms such as joint pain, swollen lymph nodes, skin rash, headaches, and abdominal pain. Hyper IgD syndrome is the less severe form of a metabolic disorder known as mevalonate kinase deficiency.
0 Comments
Leave a Reply. |
AuthorWrite something about yourself. No need to be fancy, just an overview. ArchivesCategories |