Telomere biology disorder

Overview

Type of disease: Rare conditions

Telomere biology disorders are a complex group of conditions in which the telomeres (the ends of chromosomes) are abnormally short. Dyskeratosis congenita (please also visit: dyskeratosis congenita.) is one of many telomere biology disorders. Telomeres are a very important part of the chromosomes (long strands of DNA), because they protect the chromosomes from attaching to each other or becoming inactive. Chromosomes duplicate in order to produce new cells through a process known as mitosis. This process occurs almost constantly and is how we grow and heal both from minor injuries and cuts on our skin, as well as internally heal damage done to our organs. Chromosomes shorten each time they duplicate, and the telomeres work as buffers so none of the DNA in the chromosomes is lost throughout this process. However, when the telomeres become too short, the chromosomes can no longer duplicate and new cells can no longer be produced by that cell. Individuals with telomere biology disorders may present with many symptoms, but the three most common are abnormally pigmented skin, brittle or fragile finger nails, and white plague or patches that form in the mouth and cannot be rubbed off (oral leukoplakia). These indivviduals also have an increased risk for many health conditions such as cancer, bone marrow failure, and pulmonary fibrosis. Diagnosis has become easier as more knowledge of these conditions is becoming more readily available, but the process is still not perfect. Treatment is not currently available, but the symptoms may be manageable. Talk to your doctor for the most up to date treatment options for you or your child. Support groups are also a good source of information and support.

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