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Altered Ocular Fibrillin Microfibril Composition in Mice With a Glaucoma-Causing Mutation of Adamts10
Hang-Jing Wu1, Douglas P Mortlock2, Rachel W Kuchtey1,2
1Vanderbilt Eye Institute, Vanderbilt University Medical Center, Nashville, Tennessee, United States.
Investigative Ophthalmology & Visual Science
|August 23, 2021
Summary
A specific ADAMTS10 mutation causes Weill-Marchesani syndrome (WMS) features in mice, including altered ocular fibrillin microfibrils. This study investigates the mutation
Area of Science:
- Genetics and ophthalmology research.
- Focus on inherited eye diseases and connective tissue disorders.
Background:
- Mutations in ADAMTS10 (a disintegrin-like and metalloprotease with thrombospondin type 1 motif 10) are linked to Weill-Marchesani syndrome (WMS).
- WMS is also associated with mutations in fibrillin-1 (FBN1), suggesting a functional link between ADAMTS10 and fibrillin-1 in microfibril formation.
Purpose of the Study:
- To establish a mouse model (Adamts10G661R/G661R) with a known disease-causing mutation in ADAMTS10.
- To investigate if this mouse model exhibits features of WMS and alterations in ocular microfibrils.
Main Methods:
- Phenotypic analysis of Adamts10G661R/G661R mice, including body size, intraocular pressure (IOP), central cornea thickness (CCT), anterior chamber depth (ACD), and axial length (AL).
- Ocular tissue examination using spectral-domain optical coherence tomography and immunohistochemistry for fibrillin-1, fibrillin-2, and ADAMTS10.
Main Results:
- Adamts10G661R/G661R mice showed normal IOP but exhibited smaller body size, thicker CCT, and shallower ACD compared to wild-type mice.
- Immunofluorescence revealed persistent fibrillin-2 and enhanced fibrillin-1 in the lens zonules and hyaloid vasculature of mutant mice.
- Axial length remained normal in the mutant mice.
Conclusions:
- Adamts10G661R/G661R mice successfully recapitulate key features of WMS, including short stature and ocular abnormalities.
- The observed changes in fibrillin-1 and fibrillin-2 immunoactivity suggest that the G661R mutation in Adamts10 disrupts the regulation of microfibril composition in the mouse eye.
