Animal Models of Inherited Macular Degenerations

Introduction to Macular Degenerations

Macular degenerative diseases (MDDs), also known as age-related macular degenerations (AMD), are a class of neurological disorders that can lead to blurred vision and even blindness in patients. In general, these diseases primarily affect the macula, the area in the center of the retina. This macular region controls many important visual-related activities, such as watching TV or driving a car. MDD has become a major cause of vision loss in the elderly, with 25-35% of people over 75 suffering from these diseases.

Nowadays, MDD has been divided into two key types, non-exudative AMD or exudative AMD, according to different clinical manifestations. Non-exudative AMD is mainly caused by abnormal cell function related to protein deposition in the retina. This type of disease is common and develops slowly, but can lead to blindness. Exudative AMD is a more serious condition, due to the leakage of retinal blood vessels caused by fluid, which can cause a rapid loss of vision in patients. Also, many reports have demonstrated that heredity and genetics play an important role in AMD.

Fig.1 An integrated model of AMD pathogenesis. (Ambati, 2013)

Inherited MDDs and Animal Models

In recent years, many reports have demonstrated that heredity and genetics play an important role in AMD. In certain populations, such as white Americans, many MDDS develop retinal pigment epithelium cell dysfunction, resulting in loss of photoreceptor cells. About 20 percent of AMD patients have a positive family history, and the prevalence of these patients' families is much higher than in other populations. In addition, the potential role of genetic variation in the development of AMD has attracted much attention in recent years. Several studies have also confirmed links between AMD and various genetic polymorphisms.

Besides, gene mutation analysis of inherited MDDs in animals has been considered a powerful tool for collecting useful data on main MDD-associated pathways. Understanding the genetic characteristics and specific phenotypes between different animal models and humans can effectively predict the function of new genes in humans. For example, the association between gene mutations and disease have been studied in genetically modified animal models, such as knockout mice and transgene rat. Numerous data have suggested that these models offer detailed histological features of AMD and provide insights into the underlying pathology of MDD diseases. Furthermore, MDD animal models are also essential for high-throughput screening candidate drugs, evaluating the drug safety and efficacy in preclinical trials, and reduce the cost of drug discovery.

By continuing to grow in response to the requirements of our clients, Creative Biolabs is dedicated to exploring animal model-based studies in various types of neurological disorders to offer the most comprehensive, integrated solutions. If you are interested in our services, please contact us to discuss your project.

Reference

1. Ambati, J.; et al. Immunology of age-related macular degeneration. Nature Reviews Immunology. 2013, 13(6): 438-451.