Symptoms And Treatment Of Xeroderma Pigmentosum - 1191 Words

Xeroderma Pigmentosum is also known as XP and is a disease where the skin of a person is sensitive to UV light. The biological process that isn’t functioning correctly in XP is the ability of cells to repair damage to DNA caused by the sun and UV radiation. UV damage to DNA of cells must be removed during DNA repair. Patients with XP have a mutation to a gene that is required in DNA excision. It is this mutation that leads to clinical symptoms observed in patients. The clinical symptoms of Xeroderma Pigmentosum include skin lesions and pigementation. In addition, many patients also show symptoms of ocular manifestations and mental diseases. Nucleotide excision repair genes are related to Xeroderma Pigmentosum. These are the genes that repair DNA damage caused by mutagenic agents such as UV. Previous studies have shown that mutations to these specific set of genes are highly related to clinical symptoms in XP patients. These genes are: DDB2, ERCC2, ERCC3, ERCC4, ERCC5, POLH, XPA and XPC. One of the genes that causes the most severe cases of the disease Xeroderma Pigmentosum is the XPA gene. Previous studies have shown that mutations in this gene cause clinical symptoms of Xeroderma Pigmentosum predominantly in the Japanese population where 1 in every 40,000 people have XP1. These studies showed that there is a possibility of 25 mutations that can occur to the XPA gene to cause XP. Experiments2 previously carried out involved the cloning of the XPAC gene from a mouse andShow MoreRelatedA Brief Look at Xeroderma Pigmentosum or XP550 Words   |  2 PagesMedical condition I will talk about today is Xeroderma Pigmentosum or XP for short. XP is commonly known for its ‘Vampire’ characteristics. This is a rare medical condition which basically involves a person being exceptionally sun sensitive from UV rays of sunlight. This certain condition affects the eyes but can also be holistic if exposed to sun light. Within saying that there is also 8 different types which can vary from the asperity, to the signs or symptoms. This disease usually begins in infancyRead MoreEssay about Inherited Diseases: Xeroderma Pigmentosum927 Words   |  4 PagesThis is how children live who suffer from the inherited disease, Xeroderma Pigmentosum, otherwise known as XP. It’s a rare disease that causes extreme levels of sensitivity to UV light. The human skin is normally able to repair the skin damage, but children living with XP cannot. Its strikes one in one million born in the U.S. and Europe but is more commonly found in Japan, North Africa, and the Middle East. Xeroderma Pigmentosum is a difficult disease to live with and takes a toll on the lifeRead MoreNeoplasia10526 Words   |  43 PagesDefective DNA repair syndromes - a group of cancerpredisposing conditions is collectively characterized by defects in DNA repair and resultant DNA instability. These are generally having an Autosomal recessive pattern of inheritance e.g. a) xeroderma pigmentosum, b) ataxia- telangectasia; c) Bloom syndrome, d) Fancon i anaemia, and occasionally e) HNPCC, which is an Autosomal dominant disorder and is the most common cancer syndrome, increasing the susceptibility to cancer in the colon (esp), small intestineRead MoreCancer : A Common Misconception About Cancer5956 Words   |  24 Pagestoo. SECTION 1: TRADITIONAL CANCER TREATMENTS Cancer has been around for a long time and is treatable. The traditional treatments were used when our knowledge of cancer was limited. However as we start to learn more about cancer, different and more effective treatments emerge. This section gives a brief introduction into the more basic and traditional treatments of cancer. 1.1- Surgery Surgery is one of the main treatments for cancer. It is a local treatment which means it only affects the part