Abstract: Methods for treating glomerular basement membrane disease such as Alport syndrome involving matrix metalloproteinase-12 are disclosed. Treatment may be affected, for example, by administering matrix metalloproteinase-12 inhibitors, by administering CCR2 receptor inhibitors, or by administering MCP-1 inhibitors. Matrix metalloproteinase formation is affected by the CCR2 receptor, which is stimulated by the MCP-1 chemokine.

Abstract: Methods and test kits for determining whether an individual has or is at risk for developing Usher syndrome Type IIa. The methods include obtaining a biological sample from an individual, incubating the biological sample with at least one antibody which is immunoreactive with an USH2a protein under conditions effective to produce immunoconjugates if the usherin protein is present, evaluating for the presence or absence of immunoconjugates, and correlating the presence of immunoconjugates with the individual not having Usher syndrome Type IIa, and the absence of immunoconjugates with the individual having or being at risk for developing Usher syndrome Type IIa.