Race with time
Causes
"Kids with progeria occur out of blue. There's no family history, no warning, no reason to think that this might be getting ready to happen," said Dr. Francis Collins, the scientist who first discovered the gene and is now the director of the National Institutes of Health.
In 2003, a French medical team led by Dr. Nicolas Levy (Marseille) and researchers of the NIH in the US have discovered the cause of HGPS. The driving force within this American team is Dr. Leslie Gordon.
HGPS is caused by a mutation in the gene called LMNA (pronounced, lamin – a). The LMNA gene produces the Lamin A protein, which is the structural scaffolding that holds the nucleus of a cell together. Researchers now believe that the defective Lamin A protein makes the nucleus unstable. That cellular instability appears to lead to the process of premature aging in Progeria. It is caused by a point-mutation in Chromosome 1. This causes a defect in the production of proteins Lamin A and C.
In the DNA of these children the place of a genetic failure: this fault acts ' spontaneously ' at conception. By a deviation to LMNA-gen (the Lamine A) the body of Progeria patients can not produce Lamin-a well. Because of this the inside of the nucleus of a cell becomes abnormally composed.
HGPS can be diagnosed by looking at the specific genetic change, or mutation, in the Progeria gene that leads to HGPS. After an initial clinical evaluation (looking at the child’s appearance and medical records), a sample of the child’s blood will be tested for the Progeria gene. For the first time ever, there is a definitive, scientific way to diagnose the children. This will lead to more accurate and earlier diagnoses so that the children can receive proper care
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).
Progeria is related with these diseases:
Werner’s syndrome
Cockayne’s syndrome
Xeroderma pigmentosum
Scleroderma
Diagnosis
The most common way to diagnosis this disorder is though a physical examination of the child. The physical symptoms are the tell tale signs of Progeria. The disorder can also be, conclusively, diagnosed through genetic testing. This is only done after the doctor has examined the patient's medical records. A simple blood test is used to diagnose Hutchinson-Gilford Progeria.