Eyeworld

103 EW INTERNATIONAL September 2015 Contact information Kohl: susanne.kohl@uni-tuebingen.de Impact on future treatment and other conditions Previous studies have implicated an involvement of the ATF6 gene in disease models of other conditions such as diabetes and Alzheimer's. Does this mean that approved drugs that activate this pathway (UPR) in diabetes and Alzheimer's disease can potentially help in the treatment of achromatopsia patients as well? Associations of ATF6 with con- ditions like diabetes and Alzheimer's disease were identified via associa- tion studies, Dr. Kohl explained. "But our patients with genet- ic defects in ATF6 do not present with these disorders [diabetes and Alzheimer's disease]; therefore the link is not that straightforward," she said. "ATF6 in its known biological function in the UPR pathway has been studied with a large variety of degenerative diseases; as in these diseases, often unfolded/misfolded proteins play an important role." According to Dr. Kohl, in order to develop and evaluate potential therapeutic intervention, the basic prerequisite must first be established. "The mouse model [late onset rod and cone dysfunction] does not recapitulate the human phenotype [congenital, complete cone func- tion loss]," she said. "Consequently, recent research aims to elucidate the consequences in the mouse model but also understand why the human cone photoreceptor is so much more vulnerable to this defect and maybe find a more appropriate model." Additionally, more commonly occurring eye diseases including retinitis pigmentosa and macular degeneration involve loss or poor functioning of cone photoreceptors, thus giving the research team reason to believe that ATF6 may also be involved in these conditions. That is another potential direction for fur- ther investigation of the ATF6 gene. Genetic analysis has become incredibly powerful. Today, it allows experts to identify a novel associ- ation between a disease and a new gene in very small families (i.e., two affected siblings). "This has and will in the near future lead to findings like ours where a gene that has been well known for its already studied biolog- ical function is linked to a disease that it would never have been a candidate for," Dr. Kohl said. New findings and breakthroughs remind scientists how complex pathways and systems are. "It may show that proteins have multiple functions, and we will learn that we have to be open to this," Dr. Kohl said. EW Editors' note: Dr. Kohl has no financial interests related to this article. ∠ 刀攀愀搀礀 琀漀 甀猀攀 ∠ 一漀 猀瀀氀椀琀琀椀渀最 漀爀 挀甀琀琀椀渀最 ∠ 䄀氀氀漀眀猀 戀攀琀琀攀爀 挀漀猀洀攀琀椀挀 爀攀猀甀氀琀猀 ∠ 䈀攀琀琀攀爀 瀀愀琀椀攀渀琀 挀漀洀昀漀爀琀   一漀眀 爀攀椀洀戀甀爀猀攀搀 愀琀 䄀匀䌀猀 眀椀琀栀 瀀愀猀猀ⴀ琀栀爀漀甀最栀 挀漀搀攀⸀ 眀椀琀栀 瀀愀猀猀ⴀ琀栀爀漀甀最栀 挀漀搀攀⸀ 䌀氀攀愀爀 䌀漀爀渀攀愀 䜀爀愀昀琀 昀爀漀洀 一攀眀 圀漀爀氀搀 䴀攀搀椀挀愀氀Ⰰ 椀渀挀⸀ 眀眀眀⸀一攀眀圀漀爀氀搀䴀攀搀椀挀愀氀⸀挀漀洀 㠀　　⸀㠀㌀㈀⸀㔀㌀㈀㜀 ㄀　㜀㘀㌀ 䔀搀椀猀漀渀 䌀漀甀爀琀Ⰰ 刀愀渀挀栀漀 䌀甀挀愀洀漀渀最愀Ⰰ 䌀䄀 㤀㄀㜀㌀　 一攀眀 圀漀爀氀搀 䴀攀搀椀挀愀氀Ⰰ 䤀渀挀⸀

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