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| IJCEM Copyright © 2008-All rights reserved. Published by e-Century Publishing Corporation, Madison, WI 53711 |
Int J Clin Exp Med 2(2):114-130;2009
Review Article
Genetic and environmental factors influencing human diseases with telomere
dysfunction
Hinh Ly
Department of Pathology and Laboratory Medicine, Emory University, Atlanta, GA 30322, USA
Received April 8, 2009; accepted May 27, 2009; available online May 31, 2009
Abstract: Both genetic and environmental factors have been implicated in the mechanism underlying the pathogenesis of serious and
fatal forms of human blood disorder (acquired aplastic anemia, AA) and lung disease (idiopathic pulmonary fibrosis, IPF). We and
other researchers have recently shown that naturally occurring mutations in genes encoding the telomere maintenance complex
(telomerase) may predispose patients to the development of AA or IPF. Epidemiological data have shown that environmental factors
can also cause and/or exacerbate the pathogenesis of these diseases. The exact mechanisms that these germ-line mutations in
telomere maintenance genes coupled with environmental insults lead to ineffective hematopoiesis in AA and lung scarring in IPF are
not well understood, however. In this article, we provide a summary of evidence for environmental and genetic factors influencing the
diseases. These studies provide important insights into the interplay between environmental and genetic factors leading to human
diseases with telomere dysfunction. (IJCEM904001).
Key words: Telomeres, telomerase, environmental factors, aplastic anemia, dyskeratosis congenita, idiopathic pulmonary fibrosis
Full Text PDF
Address all correspondence to:
Hinh Ly, PhD
Emory University Pathology Department
105L Whitehead Bldg.
615 Michael St.
Atlanta, GA 30322
Tel: (404) 712-2841, Fax: (404) 727-8538
E-mail: hly@emory.edu
Review Article
Genetic and environmental factors influencing human diseases with telomere
dysfunction
Hinh Ly
Department of Pathology and Laboratory Medicine, Emory University, Atlanta, GA 30322, USA
Received April 8, 2009; accepted May 27, 2009; available online May 31, 2009
Abstract: Both genetic and environmental factors have been implicated in the mechanism underlying the pathogenesis of serious and
fatal forms of human blood disorder (acquired aplastic anemia, AA) and lung disease (idiopathic pulmonary fibrosis, IPF). We and
other researchers have recently shown that naturally occurring mutations in genes encoding the telomere maintenance complex
(telomerase) may predispose patients to the development of AA or IPF. Epidemiological data have shown that environmental factors
can also cause and/or exacerbate the pathogenesis of these diseases. The exact mechanisms that these germ-line mutations in
telomere maintenance genes coupled with environmental insults lead to ineffective hematopoiesis in AA and lung scarring in IPF are
not well understood, however. In this article, we provide a summary of evidence for environmental and genetic factors influencing the
diseases. These studies provide important insights into the interplay between environmental and genetic factors leading to human
diseases with telomere dysfunction. (IJCEM904001).
Key words: Telomeres, telomerase, environmental factors, aplastic anemia, dyskeratosis congenita, idiopathic pulmonary fibrosis
Full Text PDF
Address all correspondence to:
Hinh Ly, PhD
Emory University Pathology Department
105L Whitehead Bldg.
615 Michael St.
Atlanta, GA 30322
Tel: (404) 712-2841, Fax: (404) 727-8538
E-mail: hly@emory.edu
