Progeria: Senescence and Nuclear Structure Abnormalities

Progeria is a genetic mutation which causes premature aging in young children. Children born with Progeria appear normal at birth, but 12 months after they begin to show signs and symptoms of aging. Some of the signs that a child has Progeria are loss of hair and they are often smaller in size than normal children. They have abnormally large heads, wrinkled skin, and smaller faces and bone structure. Children diagnosed with Progeria often only have a life expectancy of 13 years, though some have lived until they are 20 years old.Progeria’s full name is Hutchinson-Gilford Progeria Syndrome (HGPS). There are quite a few symptoms for this progressive disorder that begins to show within the first year of the child’s life. A big sign is slowed growth; they are often smaller and weigh less than average children their age. Their face appears a lot more narrowed and they have a beak like nose, they lose their hair; including eyelashes and eyebrows. They have rather tight and hard skin; which reveals veins, their head appears out of proportion for their face and they have bulging eyes.They also show several signs of age, including heart and bone issues, as well as having smaller lips, a higher-pitched voice, abnormal teeth development and diminished body fat and muscle. Progeria suffers also experience rapid and out of control heartbeats and breathing. Progeria is caused by a single genetic mutation, which is a mutation in the LMNA gene. The LMNA gene is responsible for the production of lamin A/C, which contains two proteins, lamin A and lamin C which are known to play a key role in stabilizing the cell’s inner membrane.When scientists tested Progeria suffers, they found that an abnormal type of lamin A to be produced. The abnormal protein produced shows to destabilize the cell’s membrane that is harmful to the cells that are put under physical pressure; such as cardiovascular and musculoskeletal systems. Though recently scientists have discovered that other genetic mutations in the LMNA gene can be responsible for a handful of other problems, including two rare forms of muscular dystrophy.Because of the nature of Progeria, a lot of its sufferer’s die from cardiovascular related cause; such as hypertension (high blood pressure), stroke, angina (chest pain, discomfort, or tightness that occurs when an area of the heart muscle is receiving decreased blood oxygen supply), enlarged heart and heart failure- which are all linked to ageing and are usually not experienced before the age of 50ish.Progeria is not hereditary, but is a random occurring defect in the genetics, though the mutation is shown to start within the sperm before fertilization, as the LMNA gene in that sperm would be defected through natural/unexpected cause and is not linked to the parent. Often in cases, only one child is affected yet in extremely rare cases more than one child can receive the disease.The probability of this disorder being contracted in a one in four billion chance. Currently there isn’t a cure for Progeria, but there are several websites and helpful resources somebody with a child suffering from progeria can turn to. At the moment scientists and doctors are working to find a cure for the disease, with a hopeful avenue in Farnesyltransferase inhibitors (FTIs); which are currently used to treat cancer.FTI’s appear to help reverse the nuclear structure abnormalities linked with progeria, and in September 2012 a clinical research showed that considerable weight gain, bone improvement and improvement on the cardiovascular system had been experienced through these tests. So it looks as if in the future Progeria sufferers may just be able to fight the disorder. “Researchers at NHGRI and their collaborators in the Progeria Research Consortium are currently exploring the next steps in understanding the cause of this disease, and possible ways of developing new treatments.This work includes creation of a mouse model of the disease, as well as the possibility of using existing drugs to block or reduce production of the abnormal lamin A protein in children with progeria. Another approach being contemplated is the use of high-throughput screening technology to identify chemical compounds that might reverse nuclear membrane abnormalities of the type seen in the cells of children with progeria. ” (Exert from http://www. genome. gov/11007255)

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