Telomerase reverse transcriptase haploinsufficiency and telomere length in individuals with 5p- syndrome.

Telomerase reverse transcriptase haploinsufficiency and telomere length in individuals with 5p- syndrome. Research Abstract Details 

Research Abstract Table of Contents

Jump to the:

Telomerase reverse transcriptase haploinsufficiency and telomere length in individuals with 5p- syndrome. Abstract Text:

Hong-Yan Du,Rachel Idol,Sara Robledo,Jennifer Ivanovich,Ping An,Arturo Londono-Vallejo,David B Wilson,Philip J Mason,Monica Bessler,Hong-Yan Du,Rachel Idol,Sara Robledo,Jennifer Ivanovich,Ping An,Arturo Londono-Vallejo,David B Wilson,Philip J Mason,Monica Bessler,

Telomerase, which maintains the ends of chromosomes, consists of two core components, the telomerase reverse transcriptase (TERT) and the telomerase RNA (TERC). Haploinsufficiency for TERC or TERT leads to progressive telomere shortening and autosomal dominant dyskeratosis congenita (DC). The clinical manifestations of autosomal dominant DC are thought to occur when telomeres become critically short, but the rate of telomere shortening in this condition is unknown. Here, we investigated the consequences of de novo TERT gene deletions in a large cohort of individuals with 5p- syndrome. The study group included 41 individuals in which the chromosome deletion resulted in loss of one copy of the TERT gene at 5p15.33. Telomere length in peripheral blood cells from these individuals, although within the normal range, was on average shorter than in normal controls. The shortening was more significant in older individuals suggesting an accelerated age-dependent shortening. In contrast, individuals with autosomal dominant DC due to an inherited TERC gene deletion had very short telomeres, and the telomeres were equally short regardless of the age. Although some individuals with 5p- syndrome showed clinical features that were reminiscent of autosomal dominant DC, these features did not correlate with telomere length, suggesting that these were not caused by critically short telomeres. We conclude that a TERT gene deletion leads to slightly shorter telomeres within one generation. However, our results suggest that several generations of TERT haploinsufficiency are needed to produce the very short telomeres seen in patients with DC.

Telomerase reverse transcriptase haploinsufficiency and telomere length in individuals with 5p- syndrome. Publishing Authors By Initials

HY Du,R Idol,S Robledo,J Ivanovich,P An,A Londono-Vallejo,DB Wilson,PJ Mason,M Bessler,HY Du,R Idol,S Robledo,J Ivanovich,P An,A Londono-Vallejo,DB Wilson,PJ Mason,M Bessler,

For similar abstracts research abstracts see: abstracts research

PUBMED ID PMID:

MEDLINE DATE:

Telomerase reverse transcriptase haploinsufficiency and telomere length in individuals with 5p- syndrome. Journal Published:

PUBLICATION TYPE: Research Support, N.I.H., Extr

Journal: Aging cell

VOLUME: 6

Page Numbers: 689-97

Journal Abbreviation: Aging Cell

ISSN: 1474-9718

DAY: 18

MONTH: Oct

YEAR: 2007

Telomerase reverse transcriptase haploinsufficiency and telomere length in individuals with 5p- syndrome. Information

Number of References:

LANGUAGE: eng

NlmUniqueID: 101130839

Telomerase reverse transcriptase haploinsufficiency and telomere length in individuals with 5p- syndrome. Keywords Mesh Terms:

KEYWORDS:

MESH TERMS:

Chemical & Substance for Abstract: Telomerase reverse transcriptase haploinsufficiency and telomere length in individuals with 5p- syndrome. Information

Substance Name:

Registry Number:

Grant and Affiliation Information for Telomerase reverse transcriptase haploinsufficiency and telomere length in individuals with 5p- syndrome.

AFFILIATION: Department of Internal Medicine, Washington Uiversity School of Medicine, 660 S Euclid Avenue, St. Louis, MO 63110, USA.

Country: England

AGENCY: United States NCI

GRANT: R01 CA106995

ACRONYM: CA

MEDLINETA: Aging Cell

REFSOURCE:

DATABASENAME:

ACCESSION NUMBER:

Number Hits: 0

Telomerase reverse transcriptase haploinsufficiency and telomere length in individuals with 5p- syndrome Related Publications

• Coagulation disturbance induced by Echis colorata venom in vivo.
• Complex inheritance pattern of dyskeratosis congenita in two families with 2 different mutations in the telomerase reverse transcriptase gene.
• Dark skin mutations shed light on inherited anemia.
• Differential effects of gastric bypass and banding on circulating gut hormone and leptin levels.
• Effect of neuroleptic administration on serum levels of soluble IL-2 receptor-alpha and IL-1 receptor antagonist in schizophrenic patients.
• Endoluminal treatment of obesity: the dawn of a new era?
• Esophageal dilation after laparoscopic adjustable gastric banding.
• Hydrophobic but not hydrophilic statins enhance phagocytosis and decrease apoptosis of human peripheral blood cells in vitro.
• Incidence and management of enteric leaks after gastric bypass for morbid obesity during a 10-year period.
• Lycopene affects proliferation and apoptosis of four malignant cell lines.
• Markers of bone and calcium metabolism following gastric bypass and laparoscopic adjustable gastric banding.
• Paired comparison vasoconstrictor assays. A comparison of methods for the determination of relative vasoconstrictor potency of topically applied corticosteroids.
• Relationship between fentanyl dosage and immune function in the postoperative period.
• Telomerase reverse transcriptase haploinsufficiency and telomere length in individuals with 5p- syndrome.
• The role of human ribosomal proteins in the maturation of rRNA and ribosome production.
• [Experiences after endovesical irradiation of the gallbladder tumors with liquid radiocobalt.]
• [Pelvic chondroma and chrondrosarcoma.]
• [Stress fractures. X-ray-scintigraphic treatment (author's transl)]