Work

The gastrointestinal manifestations of telomere‐mediated disease

Year: 2012

Type: article

Abstract: Defects in telomere maintenance genes cause pathological telomere shortening, and manifest in syndromes which have prominent phenotypes in tissues of high turnover: the skin and bone marrow. Because the gastrointestinal (GI) epithelium is highly proliferative, we sought to determine whether telomere syndromes cause GI disease, and to define its prevalence, spectrum, and natural history. We queried subjects in the Johns Hopkins Telomere Syndrome Registry for evidence of luminal GI disease. In sixteen percent of Registry subjects (6 of 38), there was a history of significant GI pathology, and 43 additional cases were identified in the literature. Esophageal stenosis, enteropathy, and enterocolitis were the recurrent findings. In the intestinal mucosa, there was striking villous atrophy, extensive apoptosis, and anaphase bridging pointing to regenerative defects in the epithelial compartment. GI disease was often the first and most severe manifestation of telomere disease in young children. These findings indicate that telomere dysfunction disrupts the epithelial integrity in the human GI tract manifesting in recognizable disease processes. A high index of suspicion should facilitate diagnosis and management.

Source: Aging Cell

DOI: 10.1111/acel.12041

Authors: Naudia L. Jonassaint, Nini Guo, Joseph A. Califano, Elizabeth A. Montgomery, Mary Armanios

Institutions: Johns Hopkins University, Johns Hopkins Medicine, Sidney Kimmel Comprehensive Cancer Center

Language: English

Topic: Telomeres, Telomerase, and Senescence

Subfield: Physiology (medical)

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: green

Funders: Doris Duke Charitable Foundation, Serbian Academy of Sciences and Arts, National Cancer Institute, National Institute of Diabetes and Digestive and Kidney Diseases