Progeria+Viraj+Patel

Progeria Disease **Description:** Progeria disease is a rare condition that happens to young children. Progeria is a disease that makes little children have a rapid life growth. Ninety percent of the children that have progeria have a mutation on the gene that encodes the protein lamin A. Progeria usually occurs without cause. Progeria is so rare that you can’t more then one child to have the disease. Porgeria doesn’t start to affect the children until they age a little more. The disease causes the children not a gain weight. Porgeria is a very rare mutation that doesn’t happen very often.

**Inheritance: ** Progeria is a point mutation in position of LMNA gene replacing cytosine with thymine creating a form of lamin a protein which can not be processed properly and accumulates in the cell nucleus. Point mutation which is cytosine replaced by thymine in the position of the LMNA gene that codes for the lamin A protein. LMNA gene is responsible of the producing lamin proteins, which provide strength and stability in cells. Lamin A and lamin E support the nuclear envelope. When lamin A is alerted it affects the shape and the function of the nuclear envelope. These changes cause other cells to die out permanently. LMNA is a protein that which encodes by the LMNA protein.

**Symptoms: ** Progeria has a lot of symptoms that are horrible. There is growth failure during the first year of the baby’s life. Children have no hair and they lose every kind of hair on their body. They lose hair from eye brows and eyelashes. Children with progeria do not grow in height a lot so there are sort and they do not gain any kind of weight. Large head for size, it seems like the head is swollen. Small jaw just like a little child, dry scaly thin skin, and children can’t move a lot so they have limited range of motion. Teeth grow wrong they grow in all places in the mouth and have weak bones.

**Daily Life: **

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**Diagnosis: ** The disease is diagnosed when doctors suspect there’s body changes and symptoms. They have skin changes, abnormal growth like sort body and a really big head. Children lose their hair and doctors can take tests like taking a blood test. Progeria disease is passed down genetically which happens very rarely. Have specific genetic mutation and specific genetic changes in the progeria gene that leads to HGPS. The babies with progeria disease appear normal until the age of eighteen months. After eighteen years old the baby takes a very long time to grow and the baby starts to lose its hair.

**Treatment: ** There is no treatment yet for progeria. Most of the treatment is focusing on reducing complications. They have been heart bypass surgery, los-dose aspirin, and they also tried a high fcalorie diet. Growth hormone treatment, they have started to give drugs called farnesyltrans (FTI). Lower cholesterol or anticoagulant to help prevent blood clots and doctors want the children with progeria to stay active. The children get physical and occupational therapy, extraction of primary teeth, take out teeth to prevent the children with progeria to get teeth overcrowding and Investigational treatment.

**Research: ** Doctors are starting to make children with progeria take new drugs. Many hospitals are starting to take in children with progeria disease into labs to get tested with new drugs and treatments. Hospitals are taking two kids at a time into the labs. Children return to the hospitals in Boston every four months. They stay at the hospital in Boston for about four to eight days every visit. Children with progeria are starting to take FTI, scientists discovered the progeria gene and the drugs that scientists give the children it blocks the fornesyl group onto progeria and if the drug blocked the farnesyl group it could paralyze the progeria gene. Two other drugs are now included with the FTI drug and its more effective and LMNA starts progeria. .

**Additional Facts: ** Lamin is fibrous protein providing structural function and transcriptional regulation in the cell nuclease. Nuclear lamins intersect with the membrane associated proteins to form the nuclear lamin on the interior of the nuclear envelope. A child with progeria typically lives for about thirteen years. Children with progeria can age at a rate which is eight to ten times higher than a normal human rate. Sometimes children with progeria can live up to there late teens and very very rarely into there forties. Family members have to always be prepared for an attack that happens to there body.

**Pedigree Chart: **




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