RESEARCH PAPER ABOUT PROGERIA DISEASE

Research Paper about Progeria Disease

Research Paper about Progeria Disease

Introduction

Also known as Hutchinson-Gilford progeria syndrome (HGPS), progeria syndrome is an extremely rare and fatal genetic disease that causes premature aging in children.

Description

The name progeria means "early age". It is the most well-known form of the premature aging diseases that include Werner syndrome, Cockayne syndrome and Rothmund-Thomson syndrome. Although born looking healthy, infants with progeria quickly start to display many characteristics of accelerated aging at around 18-24 months of age (Gilbert, 2006).

Demographics

Progeria has a reported incidence of about 1 in 4-8 million newborns. It affects both sexes and all races equally. In the past 15 years, children with progeria have been reported world-wide, including Algeria, Argentina, Australia, Austria, Canada, China, Cuba, England, France, Germany, Israel, Italy, Mexico, the Netherlands, Poland, Puerto Rico, South Africa, South America, South Korea, Switzerland, Turkey, the US, Venezuela, Vietnam and Yugoslavia.

Causes and symptoms

Progeria syndrome is caused by a mutation in a gene called LMNA, which produces the proteins lamin A and lamin C, structural proteins that are essential components of the nuclear envelope that surrounds the nucleus of cells. Research has shown that the mutations responsible for progeria syndrome result in the production of an abnormal version of the lamin A protein. The altered protein makes the nuclear envelope unstable and progressively damages the nucleus, making cells more likely to die prematurely (Gilbert, 2006), which leads to premature aging. Progeria syndrome is an autosomal dominant condition, meaning that one copy of the defective gene in each cell is sufficient to cause the disorder. The condition results from new mutations in the LMNA gene, and almost always occurs in people with no history of the disorder in their family.

The development of the disease, can vary depending on the constitution of the child and on environmental factors. Most children affected by progeria start to display symptoms in their first two years of life. Signs usually first develop between the age of 6 and 12 months, when the child fails to gain weight and skin starts to become thick and inelastic, particularly on the arms, legs, and hips. Occasionally, the disease does not develop until 2 years of age or later. Symptoms include growth failure during the first year, loss of body fat and hair, aged-looking skin, short stature, thin limbs, large head for size of face (macrocephaly), small jaw (Parker, 2007), limited range of motion, delayed teeth formation, and stiffness of joints. As the disease progresses, it leads to hip dislocations, generalized atherosclerosis, cardiovascular (heart) disease and stroke. The children have a remarkably similar appearance, despite differing ethnic background. Intelligence and the mental development of children with progeria are usually completely normal, and many are above average intelligence. They also demonstrate the same range of emotions and feelings as other children.

Diagnosis

Diagnosis is established upon observation of the symptoms of premature aging. Genetic testing can also detect the mutations in LMNA that cause progeria. After an initial clinical evaluation looking at the child's appearance and medical records, ...