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Printable Handouts
Navigable Slide Index
- Introduction
- Disclosures
- Complement biology and genetics
- Complement genetic variability
- Inherited complement-related diseases
- Complement is a major player in several diseases
- Genotype-phenotype correlations (factor H)
- Disease-associated complement genetic variants
- aHUS: mutations in the C-terminus of FH
- CFH mutations and C3G
- The mechanism of C3G
- Distinct FH mutations in C3G and aHUS
- Genotype-phenotype correlations (aHUS)
- aHUS: risk factors and pathogenic mechanism (1)
- aHUS: risk factors and pathogenic mechanism (2)
- Gain-of-function mutations
- C3 genotype-phenotype correlations
- Age-related macular degeneration (AMD)
- Complement dysregulation in AMD
- Complotype: combined C3, fB and fH variants
- Complotypes, infection and inflammation
- Opposing roles of CFH-CFHRs polymorphisms
- Concurrence of multiple risk factors
- Complex rearrangements of complement genes
- The CFH-CFHRs locus
- ΔCFHR3-CFHR1 protects from AMD
- The CFH/CFHRs region and aHUS
- Exchanging C-terminal regions FH and FHR-1
- Gain of function CFHRs mutations cause C3G
- “Misleading” complement regulation
- Complement genetic testing
- Understanding genetic variants
- Allele frequencies of gene variants
- In silico analysis of novel variants
- The importance of the functional analyses
- Conclusions
- Thank you
Topics Covered
- Inherited complement-related diseases
- Complement genetic variability
- Genotype-phenotype correlations
- Complement dysregulation in age-related macular degeneration (AMD)
- The complotype
- Complex rearrangements of complement genes
- Complement genetic testing
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Talk Citation
Rodríguez de Córdoba, S. (2018, June 28). Physiopathological implications of genetic variability in the complement alternative pathway [Video file]. In The Biomedical & Life Sciences Collection, Henry Stewart Talks. Retrieved February 17, 2019, from https://hstalks.com/bs/3765/.Publication History
Physiopathological implications of genetic variability in the complement alternative pathway
Published on June 28, 2018
49 min
Transcript
0:00
Physiopathological Implication of Genetic Variability
in the Complement Alternative Pathway.
My name is Santiago Rodriguez de Cordoba,
and I work at the Centro de Investigaciones
Biologicas in Madrid, Spain.
0:15
My disclosures are that I had been receiving fees from
Alexion Pharmaceuticals for participation in advisory boards,
expert meetings and teaching courses.
I'm also a founder-member and shareholder of Secugen S.L.
0:30
Complement is a crucial element of our innate immunity to fight infection.
It has an intrinsic ability to sense and react to pathogens.
But complement not only serve to eliminate pathogens,
also contribute to other physiological surveillance functions.
The most well known perhaps is clearance of Cellular debris and immune complexes.
But also participate in several other activities like tissue repair,
CNS development, and adaptive immune responses of lipid metabolism.
It is very important to realize that Complement is a double-edged sword.
Despite it's carefully controlled under normal circumstances to prevent host cell damage,
these regulatory mechanisms sometime become overwhelmed or misled,
and result in a number of serious conditions.
In this presentation, I will address the issue of complement genetic variability and
how that influences complement activity and regulation causing disease.
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