Schön Christian, Becirovic Elvir, Biel Martin, Michalakis Stylianos
Department of Pharmacy, Center for Drug Research, Center for Integrated Protein Science Munich CiPSM, Ludwig-Maximilian-University, Munich, Germany.
Methods Mol Biol. 2018;1715:33-46. doi: 10.1007/978-1-4939-7522-8_3.
Achromatopsia (ACHM) and retinitis pigmentosa (RP) are inherited disorders caused by mutations in cone and rod photoreceptor-specific genes, respectively. ACHM strongly impairs daylight vision, whereas RP initially affects night vision and daylight vision at later stages. Currently, gene supplementation therapies utilizing recombinant adeno-associated virus (rAAV) vectors are being developed for various forms of ACHM and RP. In this chapter, we describe the procedure of designing and developing specific and efficient rAAV vectors for cone- and rod-specific gene supplementation.
全色盲（ACHM）和视网膜色素变性（RP）是分别由视锥和视杆光感受器特异性基因突变引起的遗传性疾病。全色盲严重损害明视觉，而视网膜色素变性最初影响暗视觉，并在后期影响明视觉。目前，正在为各种形式的全色盲和视网膜色素变性开发利用重组腺相关病毒（rAAV）载体的基因补充疗法。在本章中，我们描述了设计和开发用于视锥和视杆特异性基因补充的特异性高效rAAV载体的过程。
