Epigenomic signatures in age-related macular degeneration: Focus on their role as disease modifiers and therapeutic targets

Author:

Caputo Valerio12,Strafella Claudia12,Termine Andrea1,Fabrizio Carlo1,Ruffo Paola1,Cusumano Andrea3,Giardina Emiliano14,Ricci Federico5ORCID,Cascella Raffaella26

Affiliation:

1. Genomic Medicine Laboratory UILDM, IRCCS Santa Lucia Foundation, Rome, Italy

2. Medical Genetics Laboratory, Department of Biomedicine and Prevention, Tor Vergata University, Rome, Italy

3. UOSD of Ophthalmology PTV Foundation “Policlinico Tor Vergata”, Rome, Italy

4. UILDM Lazio ONLUS Foundation, Department of Biomedicine and Prevention, Tor Vergata University, Rome, Italy

5. UNIT Retinal Diseases PTV Foundation “Policlinico Tor Vergata”, Rome, Italy

6. Department of Biomedical Sciences, Catholic University Our Lady of Good Counsel, Tirana, Albania

Abstract

Epigenetics is characterized by molecular modifications able to shape gene expression profiles in response to inner and external stimuli. Therefore, epigenetic elements are able to provide intriguing and useful information for the comprehension and management of different human conditions, including aging process, and diseases. On this subject, Age-related Macular Degeneration (AMD) represents one of the most frequent age-related disorders, dramatically affecting the quality of life of older adults worldwide. The etiopathogenesis is characterized by an interplay among multiple genetic and non-genetic factors, which have been extensively studied. Nevertheless, a deeper dissection of molecular machinery associated with risk, onset, progression and effectiveness of therapies is still missing. In this regard, epigenetic signals may be further explored to disentangle disease etiopathogenesis, the possible therapeutic avenues and the differential response to AMD treatment. This review will discuss the epigenomic signatures mostly investigated in AMD, which could be applied to improve the knowledge of disease mechanisms and to set-up novel or modified treatment options.

Publisher

SAGE Publications

Subject

Ophthalmology,General Medicine

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