Genetics of Epilepsy

        Everything in the body is created according to a code in the nucleus of each cell.  This code is called DNA (DeoxyriboNucleic Acid), which makes up your genes.  DNA is shaped like a twisted ladder, which scientists called a double helix.  One side of the ladder is the sense strand, and contains the instructions to make everything in your body.  The rungs of the ladder are made of chemicals called "bases".  The four nitrogenous bases of DNA are arranged along the sugar-phosphate backbone in a particular order (the DNA sequence), encoding all genetic instructions for an organism. Adenine (A) pairs with thymine (T), while cytosine (C) pairs with guanine (G). The two DNA strands are held together by hydrogen bonds between the bases.  Because of this, DNA can copy itself by seperating the two strands and building a matching strand for each half.  This happens every time your body makes a new cell.  When the DNA is made, it coils into a tight spring shape, called a chromosome.  There are 46 chromosomes in each cell of the human body, and together these chromosomes contain over 50,000 genes.  A gene is the piece of DNA that contains the code for one protein.  Your body is made of a lot of proteins.  One protein called collagen makes up the framework of your bones and skin. Another protein called GABA (gamma amino-butyric acid) calms nerve cells to prevent seizures.

DNA Structure

Structure of DNA

        Proteins are formed when the DNA halves are "split" down the middle and an ezymne called ribonuclease makes a copy of the sense strand of the DNA.  This copy is called messenger RNA (mRNA).  The messenger RNA travels to the cell's protein factory, which is also made of RNA, and is called a ribosome.  The ribosome holds the messenger RNA tight so that the code can be read and the protein assembled.  Transfer RNA (tRNA), reads the bases of the messenger RNA, three at a time, and puts the correct protein building block (amino acid) in place.  When it reaches the stop code, the protein is complete and the ribosomal RNA (rRNA) lets go of the messenger RNA and the newly made protein.

        Mutations are mistakes in the process of duplicating DNA.  When the DNA is mutated, it can cause the protein to be made wrong.  Proteins work because of their special shape.  Changing any part of a protein changes the way it folds, which means it can't work properly anymore.  Scientists are just starting to understand some of the genes that can cause epilepsy.  Knowing about genes that cause epilepsy could help scientists make medicines that would replace the proteins that aren't working right.  It might also help doctors choose the right medicine for each person's seizures.

    One thing that scientists are interested in studying right now in relation to epilepsy is GABA.  To learn more about the Biochemistry of epilepsy, click on the frog.