Hybrid protein deregulates complement in dense deposit disease

Dense deposit disease is a rare congenital disorder that is associated with complement dysfunction and often results in end stage renal disease within 10 years of the initial diagnosis. A small percentage of dense deposit disease is associated with mutations in the genes encoding factor H or C3 and autoantibody production.

In this issue of the Journal of Clinical Investigation, Peter Zipfel and colleagues at the Leibniz Institute for Natural Products Research and Infection Biology, evaluated an index family that had 2 reported cases of dense deposit disease.

The authors identified a chromosomal deletion in the complement factor H–related (CFHR) gene cluster that resulted in production of a hybrid CFHR2/CFRH5, which stabilized C3 convertase.

Treatment with soluble C1 restored C3 convertase decay and may be a promising treatment for patients with a similar refractory form of dense despite disease.

More information: Complement factor H–related hybrid protein deregulates complement in dense deposit disease, J Clin Invest. DOI: 10.1172/JCI71866

add to favorites email to friend print save as pdf

Related Stories

Rare gene variant linked to macular degeneration

Sep 17, 2013

An international team of researchers, led by scientists at The Genome Institute at Washington University School of Medicine in St. Louis and the University of Michigan School of Public Health in Ann Arbor, ...

Certain mutations affect kidney disease risk and prognosis

Feb 21, 2013

Certain gene mutations affect individuals' risk of developing a serious kidney condition, as well as their prognosis after being diagnosed with the disease, according to a study appearing in an upcoming issue of the Journal of ...

Recommended for you

Refining the language for chromosomes

22 hours ago

When talking about genetic abnormalities at the DNA level that occur when chromosomes swap, delete or add parts, there is an evolving communication gap both in the science and medical worlds, leading to inconsistencies in ...

Down's chromosome cause genome-wide disruption

Apr 16, 2014

The extra copy of Chromosome 21 that causes Down's syndrome throws a spanner into the workings of all the other chromosomes as well, said a study published Wednesday that surprised its authors.

User comments