Association between nutritional risk markers and polymorphisms rs2291166 in TJP1 and VNTR (CAG)n in ATXN2 in an obese adolescent Mexican population

Aldrete, Maria Elena Aguilar; López-Toledo, Sabina; Avendaño, Arturo Caballero; Ruano, Nemesio Villa; Hernández, Rosa Elena Navarro; Alvarado, Luis Javier Flores; Keita, Hady; Lopez, Rufina Guzmán; Sánchez, Juan Carlos Ramírez; García, Sonia Fuentes

doi:10.1016/j.endien.2020.02.006

Cited by 1 publication

(1 citation statement)

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“…Ligands for these receptors include fatty acids, oxysterols and bile acids as well as rexinoids, pointing to their relevance in the regulation of metabolic pathways [68]. This metabolic change agrees with the observation of ATXN2 CAG repeats as determinant of obesity-related risk parameters in Mexican adolescents whenever CAG stretch deviated from the most common 22CAG repeat [69]. Serum testosterone levels are also decreased in SCA2 male individuals and associates with disease duration [70].…”

Section: Discussionsupporting

confidence: 84%

Ataxin-2 gene: a powerful modulator of neurological disorders

Laffita-Mesa

Paucar

Svenningsson

2021

Current Opinion in Neurology

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Purpose of review To provide an update on the role of Ataxin-2 gene ( ATXN2) in health and neurological diseases. Recent findings There is a growing complexity emerging on the role of ATXN2 and its variants in association with SCA2 and several other neurological diseases. Polymorphisms and intermediate alleles in ATXN2 establish this gene as a powerful modulator of neurological diseases including lethal neurodegenerative conditions such as motor neuron disease, spinocerebellar ataxia 3 (SCA3), and peripheral nerve disease such as familial amyloidosis polyneuropathy. This role is in fact far wider than the previously described for polymorphism in the prion protein ( PRNP ) gene. Positive data from antisense oligo therapy in a murine model of SCA2 suggest that similar approaches may be feasible in humans SCA2 patients. Summary ATXN2 is one of the few genes where a single gene causes several diseases and/or modifies several and disparate neurological disorders. Hence, understanding mutagenesis, genetic variants, and biological functions will help managing SCA2, and several human diseases connected with dysfunctional pathways in the brain, innate immunity, autophagy, cellular, lipid, and RNA metabolism.

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Section: Discussionsupporting

confidence: 84%