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Genetic basis of human complement C8 alpha-gamma deficiency
T Kojima1, T Horiuchi, H Nishizaka
1First Department of Internal Medicine, Faculty of Medicine, Kyushu University, Fukuoka, Japan.
Journal of Immunology (Baltimore, Md. : 1950)
|October 6, 1998
Summary
Deficiency of complement component C8 alpha-gamma subunit (C8alpha-gammaD) is linked to neisserial infections. Molecular analysis revealed distinct C8alpha gene mutations in two patients, explaining the deficiency.
Area of Science:
- Immunology
- Molecular Biology
- Genetics
Background:
- Deficiency of the alpha-gamma subunit of the eighth component of complement (C8alpha-gammaD) is associated with recurrent neisserial infections, including meningitis.
- Understanding the molecular basis of C8alpha-gammaD is crucial for diagnosing and managing these infections.
Observation:
- Two unrelated Japanese subjects with C8alpha-gammaD were investigated at the molecular level.
- Screening of C8alpha and C8gamma genes revealed aberrant DNA fragments in the C8alpha gene of both subjects.
Findings:
- Case 1 exhibited a homozygous splice site mutation (IVS2+1G-->T) in the C8alpha gene.
- Case 2 was a compound heterozygote with the same splice site mutation and a nonsense mutation (R394X) in the C8alpha gene.
- No mutations were found in the C8gamma gene.
Implications:
- The study identifies heterogeneous molecular defects in the C8alpha gene as the cause of C8alpha-gammaD.
- These findings contribute to the genetic understanding of complement deficiencies and their link to infectious diseases.
- This research aids in the molecular diagnosis of C8alpha-gammaD, facilitating targeted patient management.