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Are My Children at Risk for IPF? |
An IPF patient once stated, "If my children can acquire IPF based on my genetic
make-up, I want to know." His comment reflects one of the most common concerns of
IPF patients and their families.
When loved ones are faced with the reality of disease in their family it is a life-changing
experience. You receive support from family and friends. We, the members
of PA-IPF, will provide you with the opportunity to gain more knowledge about IPF
Leading research findings are currently showing advances in family genetics. In
recent research a rare hereditary disease, dyskeratosis congenita, which is also
associated with lung fibrosis, may be the link to a gene mutation responsible for
the onset of farnilid idiopathic puirnonary fibrosis (Armanios MY, et d. 2007 &
Tsakiri KD, et al. 2007).
Idiopathic Pulmonary Fibrosis (IPF) affects about 100,000-120,000 people in the
U.S. IPF is familial in about 2-20% of cases. Gene expression studies of lungs of
patients with sporadic or familial forms of IPF suggested that similar genes are
activated in the lungs of both patients groups.
Scientists have tried to identify the gene or region in the genome that is responsible
for familial idiopathic pulmonary fibrosis, hoping to shed light on what causes
the disease. In previous work they found a rare association with mutated surfactant
proteins, a molecule important in maintaining the lung ability to expand during
breathing. This mutation is very rare and investigators continued to look for other potential genetic changes that cause the disease. Mutations in a gene that encodes
an enzyme called telomerase cause a rare hereditary disease, dyskeratosis congenita,
which is also associated with lung fibrosis.
Telomerase is an enzyme that corrects the telomere. A telomere is a small segment
in the end of the chromosome that becomes shorter after
every DNA replication. It serves as the "Biological Clock" of the cell, determining its age. In cells that
"live forever" like stem cells or cancer cells an enzyme called telornerase is active
and resets the clock by renovating the telomere. The telornerase is also sometimes
activated in normal response to injury.
Scientists have looked at the DNA sequence that encodes telomerase and found that
it was frequently mutated in
patients with familial pulmonary fibrosis. This finding suggests that abnormal cellular aging may be critical in familial idiopathic pulmonary fibrosis. At this stage it is unknown whether similar mutations are associated with the non-familial
sporadic form of IPF This finding should enhance the understanding of IPF and potentially
in the future allow better diagnosis and treatment.
References:
Armanios MY, Chen JL, CoganJ D, AdlerjK, Ingersoll RG, Markin C, Lawson
WE, Xie M, Vulto I, Phillips JA, Landsdorp PM, Greider, CW and Loyd, JE (2007 March
29) Telomerase mutations in families with idiopathic pulmonary fibrosis. The New
England Journal of Medicine, 356 (13): 1317-1326
Tsakiri KD, Cronkhite JT, Kuan PJ, Xing C, Raghu G, Weissler JC, Rosenblatt RL,
Shay JW and Garcia CK (2007, April 25) Adult-onset pulmonary fibrosis caused by
mutations in telomerase. Proceedings of the National Academy of Sciences of Sciences
of the United States of America; 104 (18):7552-7557
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