MRE11A
Unveiling MRN11A: A Gene Integral to DNA Repair and Disease
Description
MRE11A (meiotic recombination 11 homolog A) is a critical gene involved in the essential cellular process of DNA repair. It encodes a protein called Mre11, which plays a crucial role in the DNA double-strand break repair (DSBR) pathway. DSBR is a vital mechanism that safeguards the integrity of our genetic material, ensuring that any breaks or damage to DNA strands are accurately repaired.
Associated Diseases
Mutations in MRE11A have been linked to several rare genetic disorders, including:
- Ataxia-telangiectasia-like disorder (ATLD): A condition characterized by progressive neurological deterioration, immune dysfunction, and radiation sensitivity.
- Nijmegen breakage syndrome (NBS): A rare genetic disorder characterized by growth retardation, microcephaly, and an increased risk of cancer.
- Breast cancer: Certain MRE11A mutations have been associated with an increased risk of breast cancer, particularly in women who carry the BRCA1 or BRCA2 mutations.
Did you Know ?
Approximately 1 in 100,000 individuals worldwide are affected by ATLD or NBS, highlighting the rarity of these MRE11A-related conditions.
