Genetics is an area of science that holds a great deal of promise for providing researchers and physicians with a better understanding of dystonia. Genetics is the study of how traits and diseases are inherited in families. Genetics includes the study of the specific genes that carry our genetic material, and how changes to these genes (called “mutations”) lead to disease symptoms
The human body is made up of billions of microscopic cells. Each human cell has a large central body called the nucleus. Inside this nucleus is our DNA (deoxyribonucleic acid). DNA is a long threadlike molecule that contains a complete set of basic genetic instructions for the human body. DNA is sectioned into 23 pairs of chromosomes
Each chromosome, in turn, carries thousands of genes arranged like beads on a string. There are over 100,000 or so genes that determine, at least in part, traits such as eye color, height, blood types, and bodily functions. The function of a gene is to provide instructions that tell cells how to behave. Most cells provide the genetic code to create specific proteins
Proteins are responsible for every chemical reaction essential for life. Hormones, enzymes, and neurotransmitters are all proteins. The body communicates with proteins, and proteins help cells make other chemicals that the body needs like hemoglobin and antibodies
The hereditary instructions contained in a gene are written in a four-letter code, with each letter corresponding to one of the chemical ingredients (called bases) of DNA: A (Adenine), T (Thymine), C (Cytosine), G (Guanine). Genes are, in essence, the "recipe" which is written in DNA language. A certain sequence of the bases, As, Ts, Cs, and Gs, constitute a recipe for a specific protein. The DNA plan contains "recipes" for making about 50,000 different types of proteins, and every second cells are using the gene recipes to make the proteins they need to function
