Recent advance research progress on complement factor Ⅰ and age-related macular degeneration / 中华实验眼科杂志

Age-related macular degeneration (AMD) is one of the most important diseases that cause vision loss among older patients in developed countries.As the progress of population aging in China,the incidence of AMD is increasing.The activation of the complement system plays an important role in AMD pathogenesis.Complement factor Ⅰ (CFI) is an important complement regulator.In recent years,there have been numerous studies about CFI single-nucleotide polymorphisms (SNPs) and AMD.The mechanism of CFI and the association between CFI polymorphisms and AMD were reviewed in the article.

Progress on molecular genetics in atypical hemolytic uremic syndrome / 国际儿科学杂志

Atypical hemolytic uremic syndrome(aHUS) has recently been shown to be a rare disease of genetic predisposition, including genes of complement factor H(CFH), membrane cofactor protein(MCP, CD46)and complement factor Ⅰ(CFI), which are complement regulatory genes. Genes mutation is about 50%,involving the three genes mutation, including nonsense mutation, missen mutation, silent mutation, splice mutation and insertion mutation. Autosomal dominant inheritance and autosomal recessive inheritance have been reported, however, for autosomal dominant inheritance, the three genes mutations are incomplete penetrance.

CFI gene and atypical hemolytic uremic syndrome / 国际儿科学杂志

Mutations in CFI, mapped to 4q25 and encoding complement factor Ⅰ, are responsible for autosomal recessive atypical hemolytic uremic syndrome aHUS). Complement factor Ⅰ, a serine proteinase, plays a key role in inhibition of the amplification loop in alternative pathway. Most of mutations in the CFI gene identified in patients with aHUS are point mutations without large deletion ones. The patients with aHUS with CFI mutations, from 2 months to 32 years of age at disease onset, have a poor outcome. Approximate 70% of the patients have low levels of complement 3, and 69.6% of the cases progress to end-stage renal disease within 3 years. The risk of post-transplantation recurrences in the CFI-mutated patients is high.Therefore,detection of the CFI gene in the patients suffering from aHUS will be beneficial to making therapeutic decisions and predicting prognoses.