Sequence analysis of five exons of SLC6A4 gene in Mexican patients with anorexia nervosa and bulimia nervosa

Hernández-Muñoz, Sandra; Camarena-Medellín, Beatriz; González-Macías, Laura; Aguilar-Garcı́a, Alejandro; Flores-Flores, G.; Dominguez, Diaz; Flores‐Ramos, Mónica; Caballero-Romo, Alejandro de Jesús

doi:10.1016/j.gene.2020.144675

Cited by 10 publications

(5 citation statements)

References 24 publications

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“…Disease relevant point mutations in human SERT are hypermorphic. The mutations were identified by screening patients afflicted with OCD, ASD, eating disorders and other neuropsychiatric disorders ( Camarena, González, Hernández, & Caballero, 2012 ; Delorme et al, 2004 ; Hernández-Muñoz et al, 2020 ; Moya et al, 2013 ; Ozaki et al, 2003 ; Sutcliffe et al, 2005 ; Voyiaziakis et al, 2011 ; Wendland et al, 2008 ). They are displayed in Fig.…”

Section: Slc6 Family: Monogenic Diseases Associated With Tra...mentioning

confidence: 99%

Functional and Biochemical Consequences of Disease Variants in Neurotransmitter Transporters: A Special Emphasis on Folding and Trafficking Deficits

Bhat

El‐Kasaby

Freissmuth

et al. 2021

Pharmacology & Therapeutics

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Section: Slc6 Family: Monogenic Diseases Associated With Tra...mentioning

confidence: 99%

Functional and Biochemical Consequences of Disease Variants in Neurotransmitter Transporters: A Special Emphasis on Folding and Trafficking Deficits

Bhat

El‐Kasaby

Freissmuth

et al. 2021

Pharmacology & Therapeutics

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“… [ 75 ] Hernández et al, 2016 AN-R and EDNOS-AN AN-BP, BN-P, BN-NP, and EDNOS-BN 18.23 ± 4.4 (for all EDs) NA 4.4 (4.14) (not divided out-all EDs) NA Serotonin receptor 1Db ( HTR1B ) HAM-A, HAM-D, SCID-1 7.9% Male Female 38. [ 150 ] Hernández-Muñoz et al, 2020 AN-R, BN 18.08 (3.89) (AN-R) 15.66 (1.51) (AN-R) 4.03 years (4.44) NA Serotonin transporter ( SLC6A4 ) EDI-2, YBC-EDS Female 39. [ 151 ] İnan-Erdoğan et al, 2019 AN No-Sub 3 14.50 ± 1.49 15.82 ± 2.44 NA NA Vitamin D receptor (VDR) (VDRBsml, VDRFokl) and estrogen receptor (ESR) (ESR1Xbal, ESR1Pvull) 20% male 40.…”

Section: Methodsmentioning

confidence: 99%

Inclusion of the severe and enduring anorexia nervosa phenotype in genetics research: a scoping review

Ramsay,

Allison,

Temples

et al. 2024

J Eat Disord

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Background Anorexia nervosa has one of the highest mortality rates of all mental illnesses. For those who survive, less than 70% fully recover, with many going on to develop a more severe and enduring phenotype. Research now suggests that genetics plays a role in the development and persistence of anorexia nervosa. Inclusion of participants with more severe and enduring illness in genetics studies of anorexia nervosa is critical. Objective The primary goal of this review was to assess the inclusion of participants meeting the criteria for the severe enduring anorexia nervosa phenotype in genetics research by (1) identifying the most widely used defining criteria for severe enduring anorexia nervosa and (2) performing a review of the genetics literature to assess the inclusion of participants meeting the identified criteria. Methods Searches of the genetics literature from 2012 to 2023 were performed in the PubMed, PsycINFO, and Web of Science databases. Publications were selected per the Preferred Reporting Items for Systematic Reviews and Meta-Analyses extension for Scoping Reviews (PRISMA-ScR). The criteria used to define the severe and enduring anorexia nervosa phenotype were derived by how often they were used in the literature since 2017. The publications identified through the literature search were then assessed for inclusion of participants meeting these criteria. Results most prevalent criteria used to define severe enduring anorexia nervosa in the literature were an illness duration of ≥ 7 years, lack of positive response to at least two previous evidence-based treatments, a body mass index meeting the Diagnostic and Statistical Manual of Mental Disorders-5 for extreme anorexia nervosa, and an assessment of psychological and/or behavioral severity indicating a significant impact on quality of life. There was a lack of consistent identification and inclusion of those meeting the criteria for severe enduring anorexia nervosa in the genetics literature. Discussion This lack of consistent identification and inclusion of patients with severe enduring anorexia nervosa in genetics research has the potential to hamper the isolation of risk loci and the development of new, more effective treatment options for patients with anorexia nervosa.

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“…In the CNS, the SERT is the biological regulator of the serotonergic system by absorbing serotonin from the synaptic space to presynaptic neurons (1,2). The SERT plays an important role in the emotional process, stress, and mental and metabolic disorders, such as obesity (3,4). The SERT is the primary target of therapeutic drugs for various diseases, including depression and stress.…”

Section: Serotonin Transporter Gene (Slc6a4)mentioning

confidence: 99%

“…This gene contains 15 exons that cover the promoter region with 40 kb. The protein transcription sequence of the SERT gene contains 630 amino acids, with 12 domains passing seven times through the membrane (3,4). The insertion/deletion polymorphism that occurs in the promoter region associated with the SERT gene results in two major alleles, short (S with 14 replicates) and long (L with 16 replicates).…”

Section: Serotonin Transporter Gene (Slc6a4)mentioning

confidence: 99%

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Association of the Effect of SLC6A4 Gene Polymorphisms on the Risk of Diabetes‏

Haghighat

Mahmoudi

2022

Gene Cell Tissue

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Context: The SLC6A4 gene encodes the serotonin transporter. Mutations in this gene can lead to various diseases, such as diabetes. Diabetes is one of the most common metabolic disorders with a genetic background. This review study evaluated the role of SLC6A4 gene polymorphisms in the risk of diabetes. Evidence Acquisition: In this review article, a literature search was conducted in scientific databases, including Google Scholar and PubMed, to find studies published within 2000 to 2021 on the role of SLC6A4 gene polymorphisms on the risk of diabetes. Results: Some genetic and environmental factors are involved in the development of diabetes. Additionally, the association between diabetes and disorder in different genes has been investigated in numerous studies. The discovery of these genetic changes in diabetes might shed light on the functional role of genetic mutations in the development of diabetes. Conclusions: Further genomic research is needed to determine the possible role of SLC6A4 gene polymorphisms in diabetes and obesity.

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Sequence analysis of five exons of SLC6A4 gene in Mexican patients with anorexia nervosa and bulimia nervosa

Cited by 10 publications

References 24 publications

Functional and Biochemical Consequences of Disease Variants in Neurotransmitter Transporters: A Special Emphasis on Folding and Trafficking Deficits

Functional and Biochemical Consequences of Disease Variants in Neurotransmitter Transporters: A Special Emphasis on Folding and Trafficking Deficits

Inclusion of the severe and enduring anorexia nervosa phenotype in genetics research: a scoping review

Association of the Effect of SLC6A4 Gene Polymorphisms on the Risk of Diabetes‏

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