WRB
The WRB Gene: Unraveling the Mysteries of DNA Repair and Disease
Description
The WRB gene, located on chromosome 11p15.5, encodes a protein known as WRN helicase. This helicase is essential for DNA replication and repair, playing a crucial role in maintaining the integrity of our genetic material. WRN helicase unwinds double-stranded DNA, allowing access for other enzymes to repair damaged segments or replicate the DNA during cell division.
Associated Diseases
Mutations in the WRB gene can lead to several inherited diseases, collectively known as Werner syndrome. Werner syndrome is a rare genetic disorder characterized by premature aging and an increased risk of cancer and other health complications. It typically manifests in the third or fourth decade of life with symptoms that mimic advanced old age, such as:
- Premature graying of hair
- Wrinkled, thin skin
- Cataracts
- Bone and joint problems
- Diabetes
- Osteoporosis
- Cardiovascular disease
- Increased susceptibility to cancer
Did you Know ?
Only about 1 in 100,000 people worldwide are affected by Werner syndrome. It is an extremely rare disease, but its study has provided valuable insights into the processes of aging and DNA repair.
