 |
|
Immunohistochemical and Molecular Genetic Evidence for Type IV Collagen  5 Chain Abnormality in the Anterior Lenticonus Associated With Alport Syndrome
Shinji Ohkubo, MD;
Hisashi Takeda, MD;
Tomomi Higashide, MD;
Mari Ito, MD;
Mayumi Sakurai, MSc;
Yutaka Shirao, MD;
Takashi Yanagida, MD;
Yoshio Oda, MD;
Yoshikazu Sado, MD
Arch Ophthalmol. 2003;121:846-850.
Objective To present evidence for a type IV collagen  5 chain (5[IV]) abnormality in the anterior lens capsule of a patient with anterior lenticonus associated with Alport syndrome.
Methods The anterior lens capsule obtained from a 54-year-old man with anterior lenticonus associated with Alport syndrome was examined ultrastructurally and stained immunohistochemically for the chains of type IV collagen, 1(IV) to 6(IV). A search was also made for a mutation in the COL4A5 complementary DNA encoding the 5(IV) chain by reverse transcription–polymerase chain reaction of illegitimate transcripts.
Results The anterior lens capsule of the patient was much thinner than that of normal subjects and lacked the 3(IV) to 6(IV) chains immunohistochemically, while control specimens stained positively for all of the (IV) chains. The patient had a C-to-T transition at nucleotide 5231 causing a nonsense mutation, R1677X, in the COL4A5 complementary DNA.
Conclusion Our findings demonstrated that normal anterior lens capsules express all of the (IV) chains and that a patient with anterior lenticonus associated with Alport syndrome had a mutation in the COL4A5 gene resulting in the lack of immunoreactivity to 3(IV) to 6(IV) chains in the anterior lens capsule.
Clinical Relevance This study showed abnormal composition of (IV) chains in the anterior lens capsule of a patient with anterior lenticonus caused by a nonsense mutation in the COL4A5 gene. Further investigation of the phenotype-genotype relationship will provide a better understanding of the molecular pathogenesis of anterior lenticonus.
From the Departments of Ophthalmology (Drs Ohkubo, Takeda, Higashide, Ito, Shirao, and Yanagida and Ms Sakurai) and Molecular and Cellular Pathology (Dr Oda), Graduate School of Medical Science, Kanazawa University, Kanazawa, Japan; and the Division of Immunology, Shigei Medical Research Institute, Okayama, Japan (Dr Sado). The authors have no relevant financial interest in this article.
 CiteULike  Connotea  Del.icio.us  Digg  Reddit  Technorati  Twitter
What's this?
THIS ARTICLE HAS BEEN CITED BY OTHER ARTICLES
Sequential Expression of Type IV Collagen Networks: Testis as a Model and Relevance to Spermatogenesis
Harvey et al.
Am. J. Pathol. 2006;168:1587-1597.
ABSTRACT
| FULL TEXT
|
