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Emerging insights reveal that rare diseases may be more prevalent than previously thought (Recher Lab)


Many rare hereditary diseases only manifest when a person inherits the corresponding genetic defect from both parents. A new study shows that this dogma is not necessarily true. (Image: Sangharsh Lohakare, unsplash)

The DBM congratulates Professor Mike Recher and his team, along with Dr. Hiroyuki Yamamoto's group from the National Institute of Infectious Diseases in Tokyo, Japan, on their recent publication in The Journal of Allergy and Clinical Immunology.

The researchers investigated recessive hereditary diseases, which occur when both alleles of a gene carry a defect. Normally, carriers of one defective allele show no symptoms because the other allele compensates. However, the study conducted by the Recher group demonstrates that some carriers can experience life-threatening diseases even with only one affected allele. The researchers looked specifically at mutations in the LIG4 gene, which codes for an enzyme that is crucial for the diversity of antibodies and T-cells in the immune system. Mutations in both alleles of this gene lead to a disrupted immune response and an increased risk of serious infections from an early age. Previously, carriers of one defective allele were considered asymptomatic, but the group has identified cases where individuals have severe symptoms. The study suggests that defects in a single allele may cause previously unexplained immune disorders more often than previously thought.

Uni News

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