): The overall objective of the proposed studies is to obtain information regarding the role of the bestrophin gene (VMD2) in retinal degeneration. Best Macular dystrophy (BMD, also called vitelliform macular dystrophy) is an autosomal dominant form of macular degeneration. BMD, caused by mutations in the VMD2 gene, leads to a progressive loss of central vision. Little is known about the protein product of this gene, called bestrophin. In the retina, bestrophin is specifically expressed in the plasma membrane of the retinal pigment epithelium (RPE). In the following application, I plan to conduct research toward understanding the physiological and molecular role of VMD2 in the retina. The first specific aim seeks to determine if mutations in the VMD2 gene cause other forms of retinal degeneration such as age-related macular degeneration (AMD) using PCR-based single-strand conformation polymorphism and direct genomic sequencing techniques. In the second aim, I plan to ascertain the subcellular localization of bestrophin in the plasma membrane of the RPE using imunocytochemistry. In the last aim, I propose in vitro electrophysiological studies as well as in vivo studies using mice. These studies include methods such as Ussing chambers, light, electron and fluorescent microscopy, gene transfer both in vivo and in vitro, electrocculography, and electroretinography. Discovering information regarding the function of bestrophin will hopefully provide knowledge about mechanisms involved in retinal degeneration.

Agency
National Institute of Health (NIH)
Institute
National Eye Institute (NEI)
Type
Postdoctoral Individual National Research Service Award (F32)
Project #
1F32EY007076-01
Application #
6294509
Study Section
Visual Sciences C Study Section (VISC)
Program Officer
Dudley, Peter A
Project Start
2000-10-01
Project End
Budget Start
2000-10-01
Budget End
2001-09-30
Support Year
1
Fiscal Year
2000
Total Cost
$32,416
Indirect Cost
Name
Massachusetts Eye and Ear Infirmary
Department
Type
DUNS #
073825945
City
Boston
State
MA
Country
United States
Zip Code
02114