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By Dr. A.

R Tiwari

What Is Progeria?
Progeria is a progressive genetic disorder that causes children to age rapidly, beginning in their first two years of life. The condition is rare; since 1886, only about 130 cases of progeria have been documented in the scientific literature. Children with progeria, also known as Hutchinson-Gilford progeria syndrome (HGPS), generally appear normal at birth. By 12 months, signs and symptoms, such as skin changes and hair loss, begin to appear. The average life expectancy for a child with progeria is 13, but some with the disease die younger and some live 20 years or longer. Heart problems or stroke is the eventual cause of death in most children with progeria. There's no cure for this condition, but ongoing research shows some promise for treatment.

Cause of Progeria
Hutchinson-Gilford Progeria Syndrome (HGPS) is a childhood disorder caused by a point mutation in position 1824 of the LMNA gene, replacing cytosine with thymine, creating an unusable form of the protein Lamin A. Lamin A is part of the building blocks of the nuclear envelope.

Unlike most other "accelerated aging diseases“ progeria is not caused by defective DNA repair. Because these "accelerated aging" diseases display different aspects of aging but never every aspect, they are often called "segmental progerias".
Unlike many genetic mutations, Hutchinson-Gilford progeria isn't passed down in families. Rather, the gene change is a chance occurrence that researchers believe affects a single sperm or egg just before conception. Neither parent is a carrier, so the mutations in the children's genes are new (de novo).

Tests and diagnosis of Progeria
 No diagnostic test confirms progeria. Doctors typically make a diagnosis based on signs and symptoms, such as failure to grow and hair loss, that typically aren't fully evident until your child is nearly 2. However, with the discovery of the genetic mutation that causes progeria, it's possible to use genetic testing for LMNA mutations at the first suspicion of progeria. The sooner you know your child has progeria, the sooner your doctor can recommend treatments that may help ease the signs and symptoms of the disorder.  A blood test may reveal that your child has a low level of high-density lipoprotein (HDL) cholesterol, the so-called good cholesterol that helps keep arteries open. This laboratory finding isn't diagnostic by itself, but may lend support to a diagnosis of progeria.

Treatment of Progeria
There's no cure for progeria. Regular monitoring for cardiovascular disease may help with managing your child's condition. Some children undergo coronary artery bypass surgery or dilation of cardiac arteries (angioplasty) to slow the progression of cardiovascular disease. Certain therapies may ease some of the signs and symptoms. They include: • Low-dose aspirin. A daily dose may help prevent he art attacks and stroke. • Physical and occupational therapy. These may help with joint stiffness and hip problems, and may allow your child to remain active. • High-calorie dietary supplements. Including extra calories in your child's daily diet may help prevent weight loss and ensure adequate nutrition.

• Feeding tube. Infants who feed poorly may benefit from a feeding tube and a syringe. You can use the syringe to push pumped breast milk or formula through the tube to make it easier for your child to feed. • Extraction of primary teeth. Your child's permanent teeth may start coming in before his or her baby teeth fall out. Extraction may help prevent problems associated with the delayed loss of baby teeth, including overcrowding and developing a second row of teeth when permanent teeth come in.

Drugs known as farnesyltransferase inhibitors (FTIs), which were developed for treating cancer, have shown promise in laboratory studies in correcting the cell defects that cause progeria. FTIs are currently being studied in human clinical trials for treatment of progeria.

What are the characteristics of Progeria?
Children with Progeria are born looking healthy. When they are about 10 to 24 months old, features of accelerated aging start to appear. Signs of Progeria may include:

o Growth failure o Loss of body fat o Loss of hair o Skin starts to look aged o Stiffness in the joints o Hip dislocation o Generalized atherosclerosis (cardio and heart disease) o Stroke

Although they may come from varying ethnic backgrounds, children with Progeria have a surprisingly similar appearance. Progeria patients generally die between the ages of 8 and 21 - with the average age being 13.

How are Progeria and ageing similar?
Children who suffer from Progeria are genetically susceptible to premature, progressive heart disease. Nearly all Progeria patients die from heart disease. Heart disease is also one of the leading causes of death globally. Children with Progeria commonly experience cardiovascular events, such as hypertension (high blood pressure), stroke, angina, enlarged heart and heart failure - conditions linked to aging.

Experts say that any research into finding a cure for Progeria would probably have results which would benefit adults with diseases linked to aging.

Is Progeria hereditary?

Experts do not believe that Progera is hereditary. They say it is due to a rare gene change which happens purely by chance. A non-twin sibling runs the same risk of having Progera as any other child from another family. In about 1 in every 100 cases of HGPS the syndrome is passed down to the next generation within the same family.