DNA (deoxyribonucleic acid) is a molecule found in the nucleus of every cell that holds the template for how living organisms are built. It is made up of chemical building blocks and the order, or sequence, of these determines what biological instructions are contained in a strand of DNA.
Genes are segments of DNA that provide templates (or patterns) for the manufacture of proteins. Mutations or mistakes in a particular gene can mean that the protein that is made will not function properly or will not be made at all, and this can cause
disease. Since the first genes causing NCL were identified in 1995 we have discovered over 400 mutations or mistakes in 14 different
genes. These 14 genes encode or are responsible for the production and function of different proteins.
Genes are organized and packaged within the cell in structures called “chromosomes.” Humans have 23 pairs of chromosomes. A child will inherit a set of chromosomes; one chromosome comes from their mother, and the other from their father.
NCL Resource – A gateway for Batten disease
The NCL resource is maintained by Professor Sara Mole, MRC Laboratory for Molecular Cell Biology, University College London and serves as a global gateway for clinicians, families, researchers and those offering professional support, who have an interest in or are affected by Batten disease or who wish to find out more.
Information can be accessed via four main routes – Clinicians, Families, Researchers and Professional Support. The Clinical route describes Batten disease and includes details on diagnosis and diagnostic services. The Family route also describes Batten disease and lists support groups. The Research route includes the NCL Mutation Database, established in 1998, and other useful information.