REPETTO LISBOA, MARIA GABRIELA

Preferred name
REPETTO LISBOA, MARIA GABRIELA
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Email
grepetto@udd.cl
ORCID
0000-0003-0120-5684
Scopus Author ID
57198456305
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    Identification of a common mutation in mucopolysaccharidosis IVA: Correlation among genotype, phenotype, and keratan sulfate
    (2004-10-14)
    Tomatsu, Shunji
    ;
    Dieter, Tatiana
    ;
    Schwartz, Ida V.
    ;
    Sarmient, Piedad
    ;
    Giugliani, Roberto
    Mucopolysaccharidosis IVA (MPS IVA) is a lysosomal storage disorder caused by the deficiency of N-acetylgalactosamine-6-sulfate sulfatase (GALNS). Mutation screening of the GALNS was performed by genomic PCR and direct sequence analyses in 20 MPS IVA patients from Latin America. In this study, 12 different gene mutations including nine unreported ones were identified in 16 severe and four attenuated patients and accounted for 90.0% of the unrelated mutant alleles. The gene alterations were missense mutations except one insertion. Six recurrent mutations, p.A75G, p.G116S, p.G139S, p.N164T, p.R380S, and p.R386C, accounted for 5.0, 10.0, 5.0, 7.5, 5.0, and 32.5% of the unrelated mutant alleles, respectively. The p.R386C mutation was identified in all Latin American populations studied. Eleven mutations correlated with a severe form, while one mutation, p.R380S, was associated with an attenuated form. MPS IVA patients had an elevation of urine and plasma keratan sulfate (KS) concentrations compared with those of the age-matched control. KS concentrations in severe patients were higher than those in attenuated patients. These data provide evidence for extensive allelic heterogeneity and presence of a common mutation in Latin American patients. Accumulation of mutations with clinical description and KS concentration will lead us to predict clinical severity of the patient more precisely.
    Scopus© Citations 39  3
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    Neuroimaging and clinical features in adults with a 22q11.2 deletion at risk of Parkinson’s disease
    (2017)
    Nancy J. Butcher
    ;
    Connie Marras
    ;
    Margarita Pondal
    ;
    Pablo Rusjan
    ;
    Erik Boot
    Scopus© Citations 45  1
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    Dataset - Genomic analysis in Chilean patients with suspected Rett syndrome: keep a broad differential diagnosis
    (2024)
    LAGOS CARRILLO,. CATALINA
    ;
    ENCINA SILVA, GONZALO
    ;
    REPETTO LISBOA, MARIA GABRIELA  
    ;
    BRITO, FLORENCIA
    ;
    BOHME, DANIELA
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    Polygenic scores contribution to Parkinson’s disease comorbidities
    (Oxford University Press (OUP), 2025)
    Carlos F Hernández
    ;
    Camilo Villaman
    ;
    Cristian Tejos
    ;
    REPETTO LISBOA, MARIA GABRIELA  
    ;
    Costin Leu
    Comorbidities are common in Parkinson’s disease and significantly impact the disease progression and management. While polygenic scores have been widely used to assess genetic risk for complex diseases, their role in comorbidity presentation in Parkinson’s disease remains unclear. This study investigates whether genetic predisposition to comorbidities, as measured by polygenic scores, differs between individuals with Parkinson’s disease and the general population and explores how genetic risk influences disease onset and sex-related differences. We analysed data from 4144 individuals with Parkinson’s disease and 370 480 individuals from the general population in the UK Biobank, focusing on four comorbidities with high-quality genome-wide association study data: Type 2 diabetes, major depressive disorder, migraine headaches and epilepsy. We first compared polygenic score distributions between individuals with Parkinson’s disease and the general population. While our findings indicate that comorbidities and polygenic risk scores do not significantly differ between individuals with Parkinson’s disease and the general population, we show an association with disease onset and sex-specific differences. Individuals with earlier disease onset (50–70 years old) had higher genetic risk for major depressive disorder (odds ratio: 2.19, P-value: 1.27 × 10⁻¹⁵) and epilepsy (odds ratio: 1.58, P-value: 0.00845). Additionally, a female participant with Parkinson’s disease exhibited higher genetic risk scores for major depressive disorder (odds ratio: 1.5, P-value: 0.0119) and migraine headaches (odds ratio: 2.1, P-value: 0.0155), while a male participant displayed higher genetic risk scores for Type 2 diabetes (odds ratio: 2.7, P-value: 2.11 × 10⁻¹⁷). Comorbidity-polygenic score did not differ between people with versus without Parkinson’s disease, yet within Parkinson’s disease, a higher genetic burden for specific comorbidities was linked to earlier onset and sex-specific presentation, implicating common variants as modifiers of clinical heterogeneity rather than the primary disease risk. These results enhance our understanding of the genetic influences shaping the broader clinical presentation of Parkinson’s disease and highlight the need for further research into the interplay between genetic risk factors, comorbidities and disease heterogeneity.
    Scopus© Citations 2  3
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    Efficacy of gamification-based smartphone application for weight loss in overweight and obese adolescents: study protocol for a phase II randomized controlled trial
    (2018)
    Patrick Timpel
    ;
    Fernando Henpin Yue Cesena
    ;
    Christiane da Silva Costa
    ;
    Matheus Dorigatti Soldatelli
    ;
    Emanuel Gois
    <jats:sec><jats:title>Background:</jats:title><jats:p> Overweight and obesity are significant public health concerns that are prevalent in younger age cohorts. Preventive or therapeutic interventions are difficult to implement and maintain over time. On the other hand, the majority of adolescents in the United States have a smartphone, representing a huge potential for innovative digitized interventions, such as weight loss programs delivered via smartphone applications. Although the number of available smartphone applications is increasing, evidence for their effectiveness in weight loss is insufficient. Therefore, the proposed study aims to assess the efficacy of a gamification-based smartphone application for weight loss in overweight and obese adolescents. The trial is designed to be a phase II, single-centre, two-arm, triple-blinded, randomized controlled trial (RCT) with a duration of 6 months. </jats:p></jats:sec><jats:sec><jats:title>Method:</jats:title><jats:p> The intervention consists of a smartphone application that provides both tracking and gamification elements, while the control arm consists of an identically designed application solely with tracking features of health information. The proposed trial will be conducted in an urban primary care clinic of an academic centre in the United States of America, with expertise in the management of overweight and obese adolescents. Eligible adolescents will be followed for 6 months. Changes in body mass index z score from baseline to 6 months will be the primary outcome. Secondary objectives will explore the effects of the gamification-based application on adherence, as well as anthropometric, metabolic and behavioural changes. A required sample size of 108 participants (54 participants per group) was calculated. </jats:p></jats:sec><jats:sec><jats:title>Discussion:</jats:title><jats:p> The benefits of the proposed study include mid-term effects in weight reduction for overweight and obese adolescents. The current proposal will contribute to fill a gap in the literature on the mid-term effects of gamification-based interventions to control weight in adolescents. This trial is a well-designed RCT that is in line with the Consolidated Standards of Reporting Trials statement. </jats:p></jats:sec>
    Scopus© Citations 25  1