The transcription factor MITF in RPE function and dysfunction

Xiaoyin Ma; Huirong Li; Yu Chen; Juan Yang; Huaicheng Chen; Heinz Arnheiter; Ling Hou

doi:10.1016/j.preteyeres.2019.06.002

The transcription factor MITF in RPE function and dysfunction

Prog Retin Eye Res. 2019 Nov:73:100766. doi: 10.1016/j.preteyeres.2019.06.002. Epub 2019 Jun 23.

Authors

Xiaoyin Ma¹, Huirong Li¹, Yu Chen¹, Juan Yang¹, Huaicheng Chen¹, Heinz Arnheiter², Ling Hou³

Affiliations

¹ Laboratory of Developmental Cell Biology and Disease, School of Ophthalmology and Optometry and Eye Hospital, Wenzhou Medical University, and State Key Laboratory of Ophthalmology, Optometry and Vision Science, Wenzhou, 325003, China.
² National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, 20892, USA.
³ Laboratory of Developmental Cell Biology and Disease, School of Ophthalmology and Optometry and Eye Hospital, Wenzhou Medical University, and State Key Laboratory of Ophthalmology, Optometry and Vision Science, Wenzhou, 325003, China. Electronic address: lhou@eye.ac.cn.

PMID: 31242455
DOI: 10.1016/j.preteyeres.2019.06.002

Abstract

Dysfunction and loss of the retinal pigment epithelium (RPE) are hallmarks of retinal degenerative diseases in mammals. A critical transcription factor for RPE development and function is the microphthalmia-associated transcription factor MITF and its germline mutations are associated with clinically distinct disorders, including albinism, microphthalmia, retinal degeneration, and increased risk of developing melanoma. Many studies have revealed new insights into central roles of MITF in RPE cell physiology, including melanogenesis, regulation of trophic factor expression, cell proliferation, anti-oxidant functions, and the visual cycle. In this review, we discuss the complex functional roles of MITF in RPE development, homeostasis, and retinal degeneration and touch upon key questions and challenges in neuroprotective strategies for retinal degenerative disorders associated with deficiencies in MITF or its many target genes.

Keywords: Melanocyte; Microphthalmia; Retinal degeneration; Retinal pigment epithelium.

Publication types

Research Support, Non-U.S. Gov't
Review

MeSH terms

Animals
Gene Expression Regulation / physiology
Humans
Microphthalmia-Associated Transcription Factor / physiology*
Retinal Degeneration / physiopathology*
Retinal Pigment Epithelium / physiology*

Substances

MITF protein, human
Microphthalmia-Associated Transcription Factor