Heterozygous RAD50 gene variant in a family with systemic sclerosis suggests role of impaired DNA repair mechanisms in disease pathogenesis.

A study published in the journal Clinical & Experimental Dermatology suggests that a heterozygous RAD50 gene variant may play a role in the development of systemic sclerosis (SSc), a rare autoimmune rheumatic disease. The study examined a family with SSc and identified the RAD50 gene variant in the index patient and her monozygotic twin sisters. RAD50 is involved in DNA repair and genomic stability, and alterations in this gene may lead to increased production of reactive oxygen species and fibrosis, which are central to the pathogenesis of SSc. The presence of the RAD50 variant may also be linked to an increased risk of developing breast cancer. Further research is needed to fully understand the mechanisms behind the RAD50 gene variant in SSc. [Extracted from the article]