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Int J Clin Exp Pathol 2(6),528-543;2009
Review Article
Telomere Dysfunction in Human Diseases: The Long and Short of It!
Kathryn A. Carroll and Hinh Ly
Department of Pathology and Laboratory Medicine, Emory University, Atlanta, GA
Received 03 April 2009; Accepted 30 April 2009; Available online 10 May 2009
Abstract: It has been over one hundred years since the first reported case of dyskeratosis congenita (DC) and over twenty since the discovery
of telomerase, an enzyme that adds telomeric DNA repeats to chromosome ends. Emerging evidence suggests that telomere dysfunction
plays an important role in the pathogenesis of DC and other human disorders involving tissues that require rapid repair and renewal
capacities. Yet we still do not fully understand how mutations in telomere maintenance genes contribute to disease development in affected
individuals. In this review, we provide an up-to-date summary of the topic by discussing the results from genetic screens of patients, in vitro
mutational analysis of involved molecules, and genetically engineered mouse models. While these data shed important light on the
mechanisms underlying disease development, further investigation, particularly in an in vivo setting, is needed. (IJCEP904004).
Key Words: Telomere, telomerase, 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. Email: hly@emory.edu
Review Article
Telomere Dysfunction in Human Diseases: The Long and Short of It!
Kathryn A. Carroll and Hinh Ly
Department of Pathology and Laboratory Medicine, Emory University, Atlanta, GA
Received 03 April 2009; Accepted 30 April 2009; Available online 10 May 2009
Abstract: It has been over one hundred years since the first reported case of dyskeratosis congenita (DC) and over twenty since the discovery
of telomerase, an enzyme that adds telomeric DNA repeats to chromosome ends. Emerging evidence suggests that telomere dysfunction
plays an important role in the pathogenesis of DC and other human disorders involving tissues that require rapid repair and renewal
capacities. Yet we still do not fully understand how mutations in telomere maintenance genes contribute to disease development in affected
individuals. In this review, we provide an up-to-date summary of the topic by discussing the results from genetic screens of patients, in vitro
mutational analysis of involved molecules, and genetically engineered mouse models. While these data shed important light on the
mechanisms underlying disease development, further investigation, particularly in an in vivo setting, is needed. (IJCEP904004).
Key Words: Telomere, telomerase, 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. Email: hly@emory.edu
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