Characterization of the Retinal Phenotype In Methylene Tetrahydrofolate Reductase (Mthfr) Deficient Mice, A Model Of Mild Hyperhomocysteinemia

Abstract

(First Paragraph) The visual system is the primary source by which information is acquired by the human brain (Fernald, 1997). The eye is the organ responsible for vision. Blindness is a devastating condition as it affects the quality of life severely. In addition, there are financial consequences associated with blindness. Most untreatable disorders of vision that lead to blindness are due to disorders/degeneration of the retina. Retina is the photosensitive layer of the eye responsible for vision (Young et al, 2006). Several factors: genetic, environmental, systemic disease have been explored in the pathophysiology of various retinal disorders. One factor implicated in retinal diseases is excess levels of the amino acid homocysteine (hcy) (Selhub et al, 1999). The purpose of these studies was to analyze the expression of Cbs and Mthfr, key enzymes of hcy pathways in the mouse retina and to characterize the retinal phenotype in Mthfr deficient mice. To lay the foundation for this thesis, this introduction is organized in the following way: The eye, retina and retinal in-vivo diagnostics are described first. This is followed by description of hcy metabolism and its association with retinal diseases and mitochondrial dysfunction as a possible mechanism of hyperhomocysteinemia (Hhcy)-mediated retinal damage.