Page 32 - Read Online

Garro-Núñez et al. J Transl Genet Genom 2022;6:361-74 Journal of Translational
DOI: 10.20517/jtgg.2022.10
Genetics and Genomics

Review Open Access

The many roles of the Alzheimer-associated gene
PM20D1

1
1
2
1
Diana Garro-Núñez , Pablo Mora-Cubillo , Sammy Fonseca-Bone , María Jesús Picado-Martínez , Michael
1
1,3
Fonseca-Brenes , Henriette Raventós-Vorst , Gabriela Chavarría-Soley 1,3
1
Biology School, Universidad de Costa Rica, San José 11501-2060, Costa Rica.
2
Graduate Studies System, Universidad de Costa Rica, San José 11501-2060, Costa Rica.
3
Center for Research in Cellular and Molecular Biology, Universidad de Costa Rica, San José 11501-2060, Costa Rica.
Correspondence to: Dr. Gabriela Chavarría-Soley, Biology School and Center for Research in Cellular and Molecular Biology,
Universidad de Costa Rica, San Pedro 11501-2060, Costa Rica. E-mail: gabriela.chavarriasoley@ucr.ac.cr
How to cite this article: Garro-Núñez D, Mora-Cubillo P, Fonseca-Bone S, Picado-Martínez MJ, Fonseca-Brenes M, Raventós-
Vorst H, Chavarría-Soley G. The many roles of the Alzheimer-associated gene PM20D1. J Transl Genet Genom 2022;6:361-74.
https://dx.doi.org/10.20517/jtgg.2022.10
Received: 15 May 2022 First Decision: 6 Jul 2022 Revised: 30 Jul 2022 Accepted: 10 Aug 2022 Published: 1 Sep 2022

Academic Editor: Sanjay Gupta Copy Editor: Fangling Lan Production Editor: Fangling Lan

Abstract
PM20D1 is a little studied enzyme until recently, belonging to the mammalian M20 peptidase family, which
catalyzes both the synthesis and hydrolysis of N-acyl amino acids (NAAs). NAAs are bioactive lipids
biosynthesized from free fatty acids and free amino acids. These molecules have been associated with many
biological functions; however, most of the biochemical mechanisms have not yet been described. The best-known
biochemical mechanism is the one involved in thermogenesis, which also has implications for reactive oxygen
species levels and cell preservation. In the last few years, genetic variation in PM20D1, as well as changes in its
methylation and expression levels, have been reported to be associated with several disease phenotypes, including
Alzheimer’s disease. In this review, we explore the current knowledge regarding the PM20D1 gene, including
aspects such as its biology, potential functions, regulation of its expression, and role in different phenotypes such
as Alzheimer’s disease, obesity, Parkinson’s disease, and several other disorders.

Keywords: N-acyl amino acid, neuropsychiatric disorders, M20 peptidase, mQTL, eQTL

© The Author(s) 2022. Open Access This article is licensed under a Creative Commons Attribution 4.0
International License (https://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, sharing,
adaptation, distribution and reproduction in any medium or format, for any purpose, even commercially, as
long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and
indicate if changes were made.

www.jtggjournal.com