Telomeres are specialized nucleoprotein structures located at
the ends of linear chromosomes in eukaryotic cells. They
consist of repetitive DNA sequences—specifically, TTAGGG
repeats in vertebrates—bound by a set of protective proteins
known as the shelterin complex. This configuration is crucial
for maintaining genomic stability by preventing the activation
of DNA damage responses and safeguarding chromosome
integrity.
Telomere Biology Disorders
Mutations affecting telomere maintenance can lead to
telomere biology disorders, also known as telomeropathies.
These conditions are characterized by abnormally short or
dysfunctional telomeres and can manifest in various ways,
including bone marrow failure, pulmonary fibrosis, and
increased susceptibility to certain cancers. Understanding the
genetic underpinnings of these disorders is crucial for
developing targeted therapies.