PLOD3-related disease is a genetic disorder that affects the way collagen is processed. Collagen is an important component of the connective tissues in the body which connect, support, and give structure to other tissues and organs in the body. Connective tissues are found in many parts of the body including bones, skin, and cartilage, and are often comprised of a matrix structure. As PLOD3-related disease affects the connective tissue, it can be thought of as one of the many connective tissue disorders.
An individual with PLOD3-related disease has a change in each of their pair of PLOD3 genes. The disease is inherited in an autosomal recessive manner whereby each PLOD3 gene change is inherited, one from each parent. Sometimes the two PLOD3 gene changes are different and sometimes they are the same (homozygous). As this disorder is autosomal recessive it can affect women and men equally. Individuals in a family that carry a single PLOD3 change are not known to have any health problems, and are known as carriers.
There are a small number of individuals known to have PLOD3-related disease. However, it is likely that there are more individuals with this disorder that are not yet diagnosed. At present, there are no known links between the type of PLOD3 change or position in the gene that can help predict which health problems an individual will develop. A comprehensive summary of the mutations affecting the human PLOD3 gene and their mapping on the three-dimensional structure of LH3 is available at http://fornerislab.unipv.it/SiMPLOD/