We use cookies to understand how you use our site and to improve your experience. This includes personalizing content and advertising. To learn more, click here. By continuing to use our site, you accept our use of cookies. Cookie Policy.

Features Partner Sites Information LinkXpress hp
Sign In
Advertise with Us
PURITAN MEDICAL

Download Mobile App




A High-Throughput Single Telomere Length Analysis Approach for Diagnosis of Telomeopathic Diseases

By LabMedica International staff writers
Posted on 29 Mar 2021
A high-throughput single telomere length analysis (HT-STELA) technique for measuring telomere length has been used to diagnose patients with a variety of telomeropathic diseases.

Telomeres are the structures at the ends of chromosomes that protect these ends from degradation or joining to one another. More...
Telomeres consist of repeat DNA sequences and the length is gradually eroded as the cell ages. Mounting evidence suggests a causal role for telomere dysfunction in a number of degenerative disorders. Their manifestations encompass common disease states such as idiopathic pulmonary fibrosis and bone marrow failure. Although these disorders seem to be clinically diverse, collectively they comprise a single syndrome spectrum defined by the short telomere defect. In rare cases, a patient’s telomere syndrome may appear as a condition called dyskeratosis congenita. This condition, which makes up about 1% of all telomere syndromes, is characterized by abnormal findings in the skin, mouth, and nails.

Single telomere length analysis (STELA) is a high-resolution single-molecule approach to determine telomere length distributions including those in the lower length ranges that are not so apparent with other commonly used technologies. However, STELA is labor intensive and based on Southern hybridization and is not well suited for the analysis of large cohorts, or for clinical laboratory applications. To overcome these limitations, investigators at Cardiff University (United Kingdom) and Queen Mary University London (United Kingdom) adapted STELA for high-throughput analysis (HT-STELA) of cancer cell populations and successfully applied this procedure to predict response to treatment in patients with chronic lymphocytic leukemia.

In the current study, the investigators employed HT-STELA to examine the full extent of telomere erosion in individuals with dyskeratosis congenita and related disorders, and to determine the utility of high-resolution telomere length analysis as a potential diagnostic test for telomeropathies.

HT-STELA was applied to a cohort of 171 unaffected individuals and a retrospective cohort of 172 short telomere mutation carriers. Results revealed that HT-STELA displayed a low measurement error with inter- and intra-assay coefficient of variance of 2.3% and 1.8%, respectively. While telomere length in unaffected individuals declined as a function of age, telomere length in mutation carriers appeared to increase due to a preponderance of shorter telomeres detected in younger individuals. These individuals were more severely affected, and age-adjusted telomere length differentials could be used to stratify the cohort for overall survival.

Telomere lengths of asymptomatic mutation carriers were shorter than controls, but longer than symptomatic mutation carriers, and telomere length heterogeneity was dependent on the diagnosis and mutational status. Thus, the data demonstrated that the ability of HT-STELA to detect short telomere lengths, that are not readily detected with other methods, meant it could provide powerful diagnostic discrimination and prognostic information.

Senior author Dr. Duncan M. Baird, professor of cancer and genetics at Cardiff University, said, "If a patient presents with a severe symptom such as bone marrow failure we can now test, more accurately and rapidly than ever before, if this is the result of a telomeropathy, thereby speeding up the process of providing a diagnosis for these patients. We believe the speed and accuracy of this technology will provide a step-change in the clinical utility of telomere testing."

The HT-STELA study was published in the March 11, 2021, online edition of the journal Human Genetics.

Related Links:
Cardiff University
Queen Mary University London



New
Gold Member
Serological Pipets
INTEGRA Serological Pipets
Serological Pipet Controller
PIPETBOY GENIUS
New
PlGF Test
Quidel Triage PlGF Test
New
Staining System
RAL DIFF-QUIK
Read the full article by registering today, it's FREE! It's Free!
Register now for FREE to LabMedica.com and get access to news and events that shape the world of Clinical Laboratory Medicine.
  • Free digital version edition of LabMedica International sent by email on regular basis
  • Free print version of LabMedica International magazine (available only outside USA and Canada).
  • Free and unlimited access to back issues of LabMedica International in digital format
  • Free LabMedica International Newsletter sent every week containing the latest news
  • Free breaking news sent via email
  • Free access to Events Calendar
  • Free access to LinkXpress new product services
  • REGISTRATION IS FREE AND EASY!
Click here to Register








DIASOURCE (A Biovendor Company)

Channels

Hematology

view channel
Image: CitoCBC is the world first cartridge-based CBC to be granted CLIA Waived status by FDA (Photo courtesy of CytoChip)

Disposable Cartridge-Based Test Delivers Rapid and Accurate CBC Results

Complete Blood Count (CBC) is one of the most commonly ordered lab tests, crucial for diagnosing diseases, monitoring therapies, and conducting routine health screenings. However, more than 90% of physician... Read more

Immunology

view channel
Image: A simple blood test could replace surgical biopsies for early detecion of heart transplant rejection (Photo courtesy of Shutterstock)

Blood Test Detects Organ Rejection in Heart Transplant Patients

Following a heart transplant, patients are required to undergo surgical biopsies so that physicians can assess the possibility of organ rejection. Rejection happens when the recipient’s immune system identifies... Read more

Pathology

view channel
These images illustrate how precision oncology Organ Chips recapitulate individual patients’ responses to chemotherapy (Photo courtesy of Wyss Institute at Harvard University)

Cancer Chip Accurately Predicts Patient-Specific Chemotherapy Response

Esophageal adenocarcinoma (EAC), one of the two primary types of esophageal cancer, ranks as the sixth leading cause of cancer-related deaths worldwide and currently lacks effective targeted therapies.... Read more
Copyright © 2000-2025 Globetech Media. All rights reserved.