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Article: The Genetics of Spondyloarthritis.

Díaz-Peña, Roberto / Castro-Santos, Patricia / Durán, Josefina / Santiago, Catalina / Lucia, Alejandro

2020 Volume 10, Issue 4

Abstract: The term spondyloarthritis (SpA) encompasses a group of chronic inflammatory diseases with common features in terms of clinical presentation and genetic predisposition. SpA is characterized by inflammation of the spine and peripheral joints, and is also ... ...

Abstract	The term spondyloarthritis (SpA) encompasses a group of chronic inflammatory diseases with common features in terms of clinical presentation and genetic predisposition. SpA is characterized by inflammation of the spine and peripheral joints, and is also be associated with extra-articular inflammatory manifestations such as psoriasis, uveitis, or inflammatory bowel disease (IBD). The etiology of SpA is not completely understood, but it is known to have a strong genetic component dominated by the human leukocyte antigen (HLA)-B27. In the last few years, our understanding of genetic susceptibility to SpA, particularly ankylosing spondylitis (AS), has greatly improved thanks to the findings derived from powered genome-wide association studies (GWAS) based on single nucleotide polymorphism (SNP) arrays. These studies have identified many candidate genes, therefore providing new potential directions in the exploration of disease mechanisms, especially with regard to the key role of the immune system in the pathogenesis of SpA. SpA is a complex disease where genetic variability, environmental factors, and random events interact to trigger pathological pathways. The aim of this review is to summarize current findings on the genetics of SpA, some of which might help to study new treatment approaches.
Language	English
Publishing date	2020-10-02
Publishing country	Switzerland
Document type	Journal Article ; Review
ZDB-ID	2662248-8
ISSN	2075-4426
ISSN	2075-4426
DOI	10.3390/jpm10040151
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Article ; Online: Genetic variations associated with non-contact muscle injuries in sport: A systematic review.

Lim, Tifanny / Santiago, Catalina / Pareja-Galeano, Helios / Iturriaga, Tamara / Sosa-Pedreschi, Alicia / Fuku, Noriyuki / Pérez-Ruiz, Margarita / Yvert, Thomas

Scandinavian journal of medicine & science in sports

2021 Volume 31, Issue 11, Page(s) 2014–2032

Abstract: Introduction: Non-contact muscle injuries (NCMI) account for a large proportion of sport injuries, affecting athletes' performance and career, team results and financial aspects. Recently, genetic factors have been attributed a role in the ... ...

Abstract	Introduction: Non-contact muscle injuries (NCMI) account for a large proportion of sport injuries, affecting athletes' performance and career, team results and financial aspects. Recently, genetic factors have been attributed a role in the susceptibility of an athlete to sustain NCMI. However, data in this field are only just starting to emerge. Objectives: To review available knowledge of genetic variations associated with sport-related NCMI. Methods: The databases Pubmed, Scopus, and Web of Science were searched for relevant articles published until February 2021. The records selected for review were original articles published in peer-reviewed journals describing studies that have examined NCMI-related genetic variations in adult subjects (17-60 years) practicing any sport. The data extracted from the studies identified were as follows: general information, and data on genetic polymorphisms and NCMI risk, incidence and recovery time and/or severity. Results: Seventeen studies examining 47 genes and 59 polymorphisms were finally included. 29 polymorphisms affecting 25 genes were found significantly associated with NCMI risk, incidence, recovery time, and/or severity. These genes pertain to three functional categories: (i) muscle fiber structural/contractile properties, (ii) muscle repair and regeneration, or (iii) muscle fiber external matrix composition and maintenance. Conclusion: Our review confirmed the important role of genetics in NCMI. Some gene variants have practical implications such as differences of several weeks in recovery time detected between genotypes. Knowledge in this field is still in its early stages. Future studies need to examine a wider diversity of sports and standardize their methods and outcome measures.
MeSH term(s)	Adolescent ; Adult ; Athletic Injuries/genetics ; Genetic Variation ; Humans ; Middle Aged ; Muscle, Skeletal/injuries ; Risk Factors ; Young Adult
Language	English
Publishing date	2021-07-26
Publishing country	Denmark
Document type	Journal Article ; Systematic Review
ZDB-ID	1077418-x
ISSN	1600-0838 ; 0905-7188
ISSN (online)	1600-0838
ISSN	0905-7188
DOI	10.1111/sms.14020
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Article: Flavanol-Rich Cocoa Supplementation Inhibits Mitochondrial Biogenesis Triggered by Exercise

García-Merino, Jose Angel / de Lucas, Beatriz / Herrera-Rocha, Karen / Moreno-Pérez, Diego / Montalvo-Lominchar, Maria Gregoria / Fernández-Romero, Arantxa / Santiago, Catalina / Pérez-Ruiz, Margarita / Larrosa, Mar

Antioxidants. 2022 Aug. 04, v. 11, no. 8

2022

Abstract: The potential role of cocoa supplementation in an exercise context remains unclear. We describe the effects of flavanol-rich cocoa supplementation during training on exercise performance and mitochondrial biogenesis. Forty-two male endurance athletes at ... ...

Abstract	The potential role of cocoa supplementation in an exercise context remains unclear. We describe the effects of flavanol-rich cocoa supplementation during training on exercise performance and mitochondrial biogenesis. Forty-two male endurance athletes at the beginning of the training season received either 5 g of cocoa (425 mg of flavanols) or maltodextrin (control) daily for 10 weeks. Two different doses of cocoa (equivalent to 5 g and 15 g per day of cocoa for a 70 kg person) were tested in a mouse exercise training study. In the athletes, while both groups had improved exercise performance, the maximal aerobic speed increased only in the control group. A mitochondrial DNA analysis revealed that the control group responded to training by increasing the mitochondrial load whereas the cocoa group showed no increase. Oxidative stress was lower in the cocoa group than in the control group, together with lower interleukin-6 levels. In the muscle of mice receiving cocoa, we corroborated an inhibition of mitochondrial biogenesis, which might be mediated by the decrease in the expression of nuclear factor erythroid-2-related factor 2. Our study shows that supplementation with flavanol-rich cocoa during the training period inhibits mitochondrial biogenesis adaptation through the inhibition of reactive oxygen species generation without impacting exercise performance.
Keywords	athletic performance ; biogenesis ; exercise ; flavanols ; interleukin-6 ; males ; maltodextrins ; mice ; mitochondria ; mitochondrial DNA ; muscles ; oxidative stress ; reactive oxygen species
Language	English
Dates of publication	2022-0804
Publishing place	Multidisciplinary Digital Publishing Institute
Document type	Article
ZDB-ID	2704216-9
ISSN	2076-3921
ISSN	2076-3921
DOI	10.3390/antiox11081522
Database	NAL-Catalogue (AGRICOLA)

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Article: Flavanol-Rich Cocoa Supplementation Inhibits Mitochondrial Biogenesis Triggered by Exercise.

Antioxidants (Basel, Switzerland)

2022 Volume 11, Issue 8

Abstract	The potential role of cocoa supplementation in an exercise context remains unclear. We describe the effects of flavanol-rich cocoa supplementation during training on exercise performance and mitochondrial biogenesis. Forty-two male endurance athletes at the beginning of the training season received either 5 g of cocoa (425 mg of flavanols) or maltodextrin (control) daily for 10 weeks. Two different doses of cocoa (equivalent to 5 g and 15 g per day of cocoa for a 70 kg person) were tested in a mouse exercise training study. In the athletes, while both groups had improved exercise performance, the maximal aerobic speed increased only in the control group. A mitochondrial DNA analysis revealed that the control group responded to training by increasing the mitochondrial load whereas the cocoa group showed no increase. Oxidative stress was lower in the cocoa group than in the control group, together with lower interleukin-6 levels. In the muscle of mice receiving cocoa, we corroborated an inhibition of mitochondrial biogenesis, which might be mediated by the decrease in the expression of nuclear factor erythroid-2-related factor 2. Our study shows that supplementation with flavanol-rich cocoa during the training period inhibits mitochondrial biogenesis adaptation through the inhibition of reactive oxygen species generation without impacting exercise performance.
Language	English
Publishing date	2022-08-04
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2704216-9
ISSN	2076-3921
ISSN	2076-3921
DOI	10.3390/antiox11081522
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Article ; Online: Physical Condition and Risk of Hospitalization and Polypharmacy in Older Adults.

Fernández-Araque, Ana / García-de-Diego, Laura / Martínez-Ferrán, María / Diez-Vega, Ignacio / Yvert, Thomas / Mingo-Gómez, Maria Teresa / Santiago, Catalina / Pareja-Galeano, Helios / Verde, Zoraida

Rejuvenation research

2022 Volume 25, Issue 4, Page(s) 200–206

Abstract: Hospitalization in older population leads to a decline in physical function, physical condition, and independency. However, a scarce number of studies has addressed the effect of being in good physical condition on the risk of hospitalization and ... ...

Abstract	Hospitalization in older population leads to a decline in physical function, physical condition, and independency. However, a scarce number of studies has addressed the effect of being in good physical condition on the risk of hospitalization and polypharmacy in older people. Therefore, this study aims to examine the relationship between physical condition and other health factors, and the incidence of hospitalization and polypharmacy in Spanish older persons. For this cross-sectional study we recruited 102 institutionalized persons aged 80 years or older, who were being treated at three primary care centers. The data collected were number of hospitalizations and medications, dietary habits, nutrition status, quality of life, independence in activities of daily life, physical performance, and associated genotype data. Scoring higher in the tests Chair stand and 8-Foot Up-and-go was found associated with reduced risks of hospitalization (odds ratio [OR] = 0.45 [95% CI = 0.2-0.99]; OR 0.32 [95% CI = 0.12-0.86]) and polypharmacy (OR = 0.36 [95% CI = 0.16-0.8]; OR = 0.28 [95% CI = 0.1-0.78]). The number of medications was also lower in individuals with a greater aerobic capacity and activities of daily life independence (OR = 0.28 [95% CI = 0.1-0.78]; OR = 0.37 [95% CI = 0.16-0.82]). No associations were found with the remaining physical performance tests or other factors assessed. Our findings point to benefits of greater strength, balance, and aerobic capacity in terms of reducing the risk of hospitalization and polypharmacy.
MeSH term(s)	Aged ; Aged, 80 and over ; Cross-Sectional Studies ; Hospitalization ; Humans ; Odds Ratio ; Polypharmacy ; Quality of Life
Language	English
Publishing date	2022-07-08
Publishing country	United States
Document type	Journal Article
ZDB-ID	2150779-X
ISSN	1557-8577 ; 1549-1684
ISSN (online)	1557-8577
ISSN	1549-1684
DOI	10.1089/rej.2021.0030
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Article: Circulating microRNAs fluctuations in exercise-induced cardiac remodeling: A systematic review.

Sanchis-Gomar, Fabian / Arnau-Moyano, Miriam / Daimiel, Lidia / Lippi, Giuseppe / Leischik, Roman / Vallecillo, Néstor / Yvert, Thomas / Jiménez, Sergio L / Santiago, Catalina / Pareja-Galeano, Helios

American journal of translational research

2021 Volume 13, Issue 12, Page(s) 13298–13309

Abstract: MicroRNAs (miRNAs) are small non-coding RNAs that participate in gene expression regulation. It has been observed that circulating levels of miRNAs may fluctuate during exercise, showing numerous cardiac biological and physiological effects such as ... ...

Abstract	MicroRNAs (miRNAs) are small non-coding RNAs that participate in gene expression regulation. It has been observed that circulating levels of miRNAs may fluctuate during exercise, showing numerous cardiac biological and physiological effects such as structural and functional adaptations. We aimed to provide an overview of the currently available information concerning the role of circulating miRNAs in cardiovascular adaptations in response to acute and/or chronic exercise training. Relevant studies published were searched in three databases: PubMed, Web of Science and Scopus. A combination of the following keywords was used: ("microRNA" OR "miRNA" OR "miR" AND "exercise" OR "training" OR "physical activity") AND "(heart hypertrophy" OR "cardiac remodeling" OR "cardiac muscle mass" OR "cardiac hypertrophy"). Only experimental studies, written in English and conducted in healthy individuals were included. Five articles met the inclusion criteria and were finally included in this systematic review after reviewing both title, abstract and full-text. A total of thirty-six circulating cardiac-related miRNAs were analyzed, but only five of them (miR-1, miR-133a, miR-146a, miR-206 and miR-221) were directly associated with cardiac adaptations parameters, while two of them (miR-1 and miR-133a) were related to cardiac hypertrophy. Most of them were upregulated immediately after a marathon and returned to basal levels at longer times. Therefore, we conclude that, although evidence is still limited, and long-term studies are needed to obtain more robust evidence, exercise is more likely to affect circulating cardiac-related miRNAs levels.
Language	English
Publishing date	2021-12-15
Publishing country	United States
Document type	Journal Article ; Review
ZDB-ID	2471058-1
ISSN	1943-8141
ISSN	1943-8141
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Article: Acute Impacts of Different Types of Exercise on Circulating α-Klotho Protein Levels.

Iturriaga, Tamara / Yvert, Thomas / Sanchez-Lorente, Isabel M / Diez-Vega, Ignacio / Fernandez-Elias, Valentin E / Sanchez-Barroso, Lara / Dominguez-Balmaseda, Diego / Larrosa, Mar / Perez-Ruiz, Margarita / Santiago, Catalina

Frontiers in physiology

2021 Volume 12, Page(s) 716473

Abstract: Introduction: ...

Abstract	Introduction:
Language	English
Publishing date	2021-09-01
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2564217-0
ISSN	1664-042X
ISSN	1664-042X
DOI	10.3389/fphys.2021.716473
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Article ; Online: Association of HTR2A-1438G/A Genetic Polymorphism With Smoking and Chronic Obstructive Pulmonary Disease.

Verde, Zoraida / Santiago, Catalina / Chicharro, Luis M / Bandrés, Fernando / Gómez-Gallego, Félix / Rodríguez González-Moro, Jose Miguel / de Lucas, Pilar

Archivos de bronconeumologia

2018 Volume 55, Issue 3, Page(s) 128–133

Abstract: Introduction: Cigarette smoking is a major risk factor in the development of chronic obstructive pulmonary disease (COPD). Serotonin levels have been associated with COPD and smoking has been as a significant modulator. Elevated levels of serotonin are ... ...

Abstract	Introduction: Cigarette smoking is a major risk factor in the development of chronic obstructive pulmonary disease (COPD). Serotonin levels have been associated with COPD and smoking has been as a significant modulator. Elevated levels of serotonin are responsible for bronchoconstriction and pulmonary vasoconstriction and also nicotine dependence, thus serotonin response could be affected by genetic polymorphisms in transporters and receptors of serotonin. Objectives: The aim of the current study was to analyze the effect of SLC6A4 (5HTT_LPR) (rs25531) and HTR2A-1438G/A (rs6311) genetic polymorphisms on the relation between smoking habits and COPD. Methods: The association between SLC6A4 (5HTT_LPR) (rs25531), HTR2A-1438G/A (rs6311), smoking degree and COPD was analyzed in a total of 77 COPD patients (active smokers) and 90 control subjects (active healthy smokers). The DNA was extracted of peripheral leukocytes samples and genotyping was performed using an allele specific polymerase chain reaction. Results: The distribution of SLC6A4 genotypes did not vary between healthy smokers and COPD patients (P=0.758). On the other hand, the A allele of HTR2A (rs6311) was significantly associated with COPD incidence in the trend model (P=0.02; 1.80 [1.04-3.11]). Among all smokers, this allele was also associated with the number of pack years smoked (P=0.02) and also, we observed a marginal association with FEV1/FVC values (P=0.06). Conclusion: Our results point a possible role of the A allele of HTR2A (rs6311) in COPD pathogenesis, suggesting that this effect depends partly on tobacco consumption due to a gene-by-environment interaction.
MeSH term(s)	Adult ; Aged ; Female ; Humans ; Male ; Middle Aged ; Polymorphism, Genetic ; Pulmonary Disease, Chronic Obstructive/genetics ; Receptor, Serotonin, 5-HT2A/genetics ; Serotonin Plasma Membrane Transport Proteins/genetics ; Smoking/genetics
Chemical Substances	Receptor, Serotonin, 5-HT2A ; SLC6A4 protein, human ; Serotonin Plasma Membrane Transport Proteins
Language	Spanish
Publishing date	2018-09-12
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	733126-5
ISSN	1579-2129 ; 0300-2896
ISSN (online)	1579-2129
ISSN	0300-2896
DOI	10.1016/j.arbres.2018.07.021
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Article ; Online: A Paradox: α-Klotho Levels and Smoking Intensity.

Verde, Zoraida / González-Moro, Jose M Rodríguez / Chicharro, Luis M / Reinoso-Barbero, Luis / Bandrés, Fernando / Gómez-Gallego, Félix / Santiago, Catalina

Lung

2017 Volume 195, Issue 1, Page(s) 53–57

Abstract: Reports regarding smoking differences in α-klotho expression have provided conflicting results. In the current study we focused on the influence of smoking intensity to serum levels of the aging molecule α-klotho in healthy smokers. 40 middle aged ... ...

Abstract	Reports regarding smoking differences in α-klotho expression have provided conflicting results. In the current study we focused on the influence of smoking intensity to serum levels of the aging molecule α-klotho in healthy smokers. 40 middle aged healthy smokers without airway obstruction or restriction were selected for the analysis. Serum levels of soluble α-klotho were significantly higher in heavy smokers (P < 0.001). These results are in agreement with the possibility that α-klotho acts as anti-inflammatory molecule and strengthen the hypothesis that an increase of serum levels of α-klotho might be a compensatory response to smoking stress in healthy population.
Language	English
Publishing date	2017-02
Publishing country	United States
Document type	Journal Article
ZDB-ID	6165-7
ISSN	1432-1750 ; 0341-2040
ISSN (online)	1432-1750
ISSN	0341-2040
DOI	10.1007/s00408-016-9944-6
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Article ; Online: Physical performance, plasma S-klotho, and all-cause mortality in elderly dialysis patients: A prospective cohort study.

Valenzuela, Pedro L / Cobo, Fernando / Diez-Vega, Ignacio / Sánchez-Hernández, Rosa / Pedrero-Chamizo, Raquel / Verde-Rello, Zoraida / González-Gross, Marcela / Santiago, Catalina / Pérez Ruiz, Margarita

Experimental gerontology

2019 Volume 122, Page(s) 123–128

Abstract: The secreted protein form of the α-klotho gene, S-klotho, is gaining popularity as a predictor of overall morbimortality, and its role in dialysis patients has been recently highlighted. However, physical performance -which can be assessed through ... ...

Abstract	The secreted protein form of the α-klotho gene, S-klotho, is gaining popularity as a predictor of overall morbimortality, and its role in dialysis patients has been recently highlighted. However, physical performance -which can be assessed through practical field-tests- might be a more practical prognostic marker. The present study aimed to analyze the relationship between physical performance, plasma S-klotho and all-cause mortality in this population. 30 male hemodialysis patients (71 ± 9 years) participated in this prospective, cohort study. Their plasma S-klotho levels and physical performance (assessed by means of the 6-minute walk test [6MWT], handgrip strength, and the sit-to-stand test [STS]) were determined at baseline, and the incidence of mortality was assessed 18-month later. Lower S-klotho levels were associated with a worse performance in all physical tests (all p < 0.05). 12 participants died during the 18 months following baseline measurements. An increased mortality risk was observed in those patients with a worse performance in the STS (RR: 3.0 [95%CI: 1.01-8.95], p < 0.05), the handgrip test (RR: 3.0 [95%CI: 1.01-8.95], p < 0.05) and the 6MWT (RR: 5.0 [95%CI: 1.31-19.07], p < 0.01), being the latter the best predictor of mortality. By contrast, this relationship was not found for plasma S-klotho (RR: 1.6 [95%CI: 0.65-1.35], p > 0.05). In summary, low plasma S-klotho levels are related to impaired physical performance in male dialysis patients. However, physical performance appears as a better and more practical predictor of mortality in this patient population.
MeSH term(s)	Aged ; Aged, 80 and over ; Biomarkers/blood ; Female ; Glucuronidase/blood ; Hand Strength ; Humans ; Logistic Models ; Male ; Middle Aged ; Mortality ; Multivariate Analysis ; Physical Functional Performance ; Predictive Value of Tests ; Prospective Studies ; Renal Dialysis/mortality ; Walk Test
Chemical Substances	Biomarkers ; Glucuronidase (EC 3.2.1.31) ; klotho protein (EC 3.2.1.31)
Language	English
Publishing date	2019-05-08
Publishing country	England
Document type	Journal Article ; Observational Study ; Research Support, Non-U.S. Gov't
ZDB-ID	390992-x
ISSN	1873-6815 ; 0531-5565
ISSN (online)	1873-6815
ISSN	0531-5565
DOI	10.1016/j.exger.2019.05.003
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