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Telomeres and Telomerase02:41

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In eukaryotic DNA replication, a single-stranded DNA fragment remains at the end of a chromosome after the removal of the final primer. This section of DNA cannot be replicated in the same manner as the rest of the strand because there is no 3’ end to which the newly synthesized DNA can attach. This non-replicated fragment results in gradual loss of the chromosomal DNA during each cell duplication. Additionally, it can induce a DNA damage response by enzymes that recognize single-stranded...
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Replicative cell senescence is a property of cells that allows them to divide a finite number of times throughout the organism's lifespan while preventing excessive proliferation. Replicative senescence is associated with the gradual loss of the telomere — short, repetitive DNA sequences found at the end of the chromosomes. Telomeres are bound by a group of proteins to form a protective cap on the ends of chromosomes. Embryonic stem cells express telomerase — an enzyme that adds...
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In eukaryotic cells, DNA replication is highly conserved and tightly regulated. Multiple linear chromosomes must be duplicated with high fidelity before cell division, so there are many proteins that fulfill specialized roles in the replication process. Replication occurs in three phases: initiation, elongation, and termination, and ends with two complete sets of chromosomes in the nucleus.
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Utilizing Murine Inducible Telomerase Alleles in the Studies of Tissue Degeneration/Regeneration and Cancer
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[Telomeropathies: A study of 15 cases].

P Antoine1, L Terriou1, G Lefèvre2

  • 1Université de. Lille, U1286 - INFINITE - Institute for Translational Research in Inflammation, 59000 Lille, France; Inserm, 59000 Lille, France; Service de médecine interne et immunologie clinique, centre de référence des maladies auto-immunes systémiques rares du Nord et Nord-Ouest de France (CeRAINO), CHU de Lille, 59000 Lille, France.

La Revue De Medecine Interne
|October 15, 2021
PubMed
Summary
This summary is machine-generated.

Telomeropathies, rare genetic disorders affecting telomere length, present complex clinical features and require careful diagnosis. Hematopoietic stem cell allografting is the only potentially curative treatment for these telomere biology-related diseases.

Keywords:
Aplasie médullaireAplastic anemiaDouble negative T cellsInterstital lung diseaseLymphocytes T doubles négatifsPneumopathies interstitiellesTelomeropathiesTéloméropathies

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Area of Science:

  • Genetics
  • Cell Biology
  • Hematology

Background:

  • Telomeres protect chromosome ends, and their maintenance involves the Shelterin and telomerase complexes.
  • Dysregulation of telomere maintenance leads to telomeropathies, a group of rare genetic disorders.
  • These conditions are challenging to diagnose and manage, often presenting with hematological abnormalities.

Purpose of the Study:

  • To describe the clinical and biological characteristics of patients with telomeropathies.
  • To review treatments administered to telomeropathy patients.
  • To identify potential diagnostic and therapeutic challenges in managing telomeropathies.

Main Methods:

  • A retrospective, single-center study was conducted.
  • Data were collected from patients followed for telomeropathy between 2005 and 2020.
  • Included probands and their relatives diagnosed with telomeropathy.

Main Results:

  • Fifteen patients from 10 families were analyzed; 60% had a TERC gene mutation.
  • Common manifestations included hematological diseases (67%), fibrotic liver (20%), and lung disease (27%).
  • A unique γδ TCR expressing double-negative T lymphocyte population was observed in 33% of patients.

Conclusions:

  • Telomeropathies are complex and can be misdiagnosed as immune aplastic anemia.
  • Awareness is crucial for optimizing patient management and avoiding inappropriate therapies.
  • Hematopoietic stem cell allografting is the sole potentially curative treatment; novel immunophenotypic findings require further investigation.