Progeria+Gena+D

Progeria **Description:** Progeria is a very rare genetic disease, known as Hutchinson-Gilford progeria syndrome, which causes children to age rapidly. They usually age about seven times the normal aging rate. It occurs with no cause, so it is a mutation. There’s no cure; however, there are medications and other things to help slow the progression of the eventual causes of death for children with progeria.

**Inheritance: **  The exact cause of this disease is unknown, but it is believed that it is because of a single abnormal gene, the lamin A gene (LMNA). The lamin A gene makes protein essential to hold the nucleus of a cell together. Both parents of the child with progeria would be normal, and nobody can be a carrier of progeria. This disease is a dominant mutation, so there is one normal copy of the gene and one abnormal copy.

**Symptoms: ** · Growth failure · Wrinkles · Baldness · Loss of eyebrows and eyelashes · Small jaw · Disproportional facial features · Dry, scaly skin · Limited range of motion · Dwarfism · Short stature · Absent or delayed formation of teeth

**<span style="color: black; font-family: Times,serif; font-size: 12pt;">Daily Life: **

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**<span style="color: black; font-family: Times,serif; font-size: 12pt;">Diagnosis: ** <span style="color: black; font-family: Times,serif; font-size: 12pt; line-height: 14.25pt; margin-bottom: 0in;"> Symptoms of the child having progeria, such as dry, scaly skin and aged physical features, usually appear around the first twelve months of age. Genetic tests can be taken, also, like tests for LMNA mutations.

**<span style="color: black; font-family: Times,serif; font-size: 12pt;">Treatment: ** <span style="color: black; font-family: Times,serif; font-size: 12pt; line-height: normal; margin-bottom: 0in;">Coronary artery bypass surgery can be performed to slow the progression of cardiovascular disease. Low-dose aspirin can be taken to prevent heart attacks, the eventual cause of death for children with progeria. Other medications can be prescribed depending on the child’s condition, such as statins to lower cholesterol and anticoagulants to prevent blood clots. Farnesyltransferase inhibitors can correct the cell defects, also. Physical or occupation therapy may help the child, or they could have an extraction of teeth because their adult teeth may grow in before their baby teeth fall out.

**<span style="color: black; font-family: Times,serif; font-size: 12pt;">Research: ** <span style="color: black; font-family: Times,serif; font-size: 12pt; line-height: normal; margin-bottom: 0in;">The Progeria Research Foundation, a non-profit organization, was founded in 1999 in Massachusetts. They made the progeria gene discovery in 2003, and in 2007, they had clinical drug trials. The seventh chapter for progeria was opened in Kentucky in 2008 to raise awareness of this disease. This foundation published the first Progeria handbook, which includes the specific necessities of a child with progeria. Farnesyltransferase inhibitors are also currently being studied in human clinical trials for treatments for progeria.

**<span style="color: black; font-family: Times,serif; font-size: 12pt;">Additional Facts: ** <span style="color: black; font-family: Times,serif; font-size: 12pt; line-height: normal; margin-bottom: 0in;">Progeria affects about one in eight million children. The life expectancy is about thirteen years of age but some were known to live until twenty years of age or longer. Progeria-infected children usually develop severe hardening of arteries, which restricts blood flow and leads to the eventual cause of death: a heart attack or a stroke.

**<span style="color: black; font-family: Times,serif; font-size: 12pt;">Punnett Square: **

**<span style="color: black; font-family: Times,serif; font-size: 12pt;">Pedigree Chart: **

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**<span style="color: black; font-family: 'Times New Roman',serif;">﻿ ****<span style="color: black; font-family: Times,serif; font-size: 12pt;">Resources: ** Here are some websites that contain a lot of information about progeria: [] [] []