Publications by authors named "Mata I"

Article Synopsis
  • Researchers have advanced understanding of Parkinson's disease genetics through genome-wide association studies (GWAS) but have found that many genetic factors still contribute to its heritability, potentially due to interactions between variants (epistasis).
  • A new screening method, VARI3, was developed to investigate these interactions using data from numerous cohorts, successfully identifying notable variant interactions in genes like SNCA, MAPT, and WNT3.
  • The study demonstrated that these epistatic signals were present across different ethnic backgrounds, including European and Native American ancestries, and linked to important biological functions related to Parkinson's disease risk.
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Synovial haemangioma is a rare benign entity, most common in children and adolescents. These tumours can extensively infiltrate joint structures and periarticular soft tissues, making management challenging. Magnetic resonance imaging (MRI) has a key role in diagnosis and therapeutic planning.

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Introduction: The first-line treatment for Parkinson's disease (PD) involves dopamine-replacement therapies; however, significant variability exists in patient responses. Pharmacogenomics has been explored as a potential approach to understanding and predicting treatment outcomes. This review aims to evaluate the current state of knowledge regarding the role of pharmacogenomics in PD, focusing on identifying challenges and proposing future directions.

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Article Synopsis
  • Latin Americans are often overlooked in genetic studies, which can widen gaps in personalized medicine due to the challenges of accessing genetic data and consent processes.
  • The Genetics of Latin American Diversity (GLAD) Project compiles genetic information from over 53,000 individuals across various regions to explore diverse ancestry and gene flow in the Americas.
  • GLAD includes a tool called GLAD-match to align external genetic samples with its database while protecting individual privacy, thus supporting more inclusive genomic research and enhancing personalized medicine for Latin Americans.
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Genetic testing for Parkinson's disease (PD) is infrequently performed due to perceptions of low utility. We investigated the personal utility in PD GENEration and how results lead to enrollment in additional research studies. Participants (n = 972) underwent genetic testing, results disclosure, genetic counseling, and completed a survey examining the perceived personal utility of their results and interest in participating in additional studies.

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Knowledge on the genetic basis of Parkinson's disease has grown tremendously since the discovery of the first monogenic form, caused by a mutation in α-synuclein, and with the subsequent identification of multiple other causative genes and associated loci. Genetic studies provide insights into the phenotypic heterogeneity and global distribution of Parkinson's disease. By shedding light on the underlying biological mechanisms, genetics facilitates the identification of new biomarkers and therapeutic targets.

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Background And Objectives: Despite decreasing prevalence of migraine with advancing age, there remains a significant proportion of individuals aged ≥65 years with migraine. Treatment of this population is difficult and they are often excluded from clinical trials, limiting evidence regarding migraine treatment outcomes. Our objective is to assess the efficacy and tolerability of anti-calcitonin gene-related peptide (CGRP) monoclonal antibody (mAb) therapies (erenumab, fremanezumab, and galcanezumab) in patients ≥65 years (O65) compared with patients <65 (U65) with daily or nondaily migraine.

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Article Synopsis
  • Multiple studies have identified genetic factors linked to Alzheimer's and Parkinson's diseases, mostly in European populations, but evidence shows genetic variations exist across different ancestries.
  • There are concerns that treatments developed based on European genetics may not be effective for Latino, Black/African American, and East Asian populations due to differing disease mechanisms.
  • This study investigates the Population Attributable Risk (PAR) for Alzheimer's and Parkinson's by analyzing genetic data from various ancestries to promote inclusive and effective treatment strategies for neurodegenerative diseases.
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Parkinson's disease (PD) is a common neurodegenerative disease that is a growing public health challenge. Estimates of the burden of PD have focused on data from high-income countries, with lower-income countries poorly described. We reviewed and examined the prevalence of PD reported by studies in low- to upper-middle-income countries.

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Introduction: Given the prevalence and staggering cost of neurological disorders, there is dire need for effective early detection and intervention tools. Emerging evidence suggests that multidisciplinary lifestyle interventions (MLI) may mitigate the risk and progression of neurological disorders. The objectives of this protocol are (1) to test the impact of MLI on the progression of neurological disorders and (2) to identify multi-omic biomarkers for early stages of neurological disease and the impact of MLIs on these biomarkers.

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Background: Until recently, about three-quarters of all monogenic Parkinson's disease (PD) studies were performed in European/White ancestry, thereby severely limiting our insights into genotype-phenotype relationships at a global scale.

Objective: To identify the multi-ancestry spectrum of monogenic PD.

Methods: The first systematic approach to embrace monogenic PD worldwide, The Michael J.

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Variants in seven genes (LRRK2, GBA1, PRKN, SNCA, PINK1, PARK7 and VPS35) have been formally adjudicated as causal contributors to Parkinson's disease; however, individuals with Parkinson's disease are often unaware of their genetic status since clinical testing is infrequently offered. As a result, genetic information is not incorporated into clinical care, and variant-targeted precision medicine trials struggle to enrol people with Parkinson's disease. Understanding the yield of genetic testing using an established gene panel in a large, geographically diverse North American population would help patients, clinicians, clinical researchers, laboratories and insurers better understand the importance of genetics in approaching Parkinson's disease.

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Background: Ginger, a root originating in Southeast Asia, has several therapeutic benefits to human health, including antioxidant activity. Currently, there are discussions regarding the hypoglycemic properties of dietary supplements derived from its phenolic compounds in the management of chronic diseases. Diabetes mellitus is a chronic and complex disease that requires continuous treatment, with glycemic control being decisive in the management of hyperglycemia.

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Background: Parkinson's disease (PD) is the second most common neurodegenerative disease following Alzheimer's disease. Nearly 30 causative genes have been identified for PD and related disorders. However, most of these genes were identified in European-derived families, and little is known about their role in Latin American populations.

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Article Synopsis
  • Many studies on brain diseases mostly involve people of European descent, which makes it hard to understand these diseases for everyone.
  • Out of 123 studies, 82% mainly included European participants, finding many genetic markers, while only a few were found in studies with non-European participants.
  • It’s super important to include more diverse backgrounds in future research to improve treatments and knowledge about these brain diseases.
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Background: Mitochondrial dysfunction occurs in monocytes during obesity and contributes to a low-grade inflammatory state; therefore, maintaining good mitochondrial conditions is a key aspect of maintaining health. Dietary interventions are primary strategies for treating obesity, but little is known about their impact on monocyte bioenergetics. Thus, the aim of this study was to evaluate the effects of calorie restriction (CR), intermittent fasting (IF), a ketogenic diet (KD), and an ad libitum habitual diet (AL) on mitochondrial function in monocytes and its modulation by the gut microbiota.

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Article Synopsis
  • Genome-wide association studies have identified genetic risk factors but often rely on imputation panels that mainly represent European ancestry, affecting quality in underrepresented groups like Latin Americans.
  • This study examines how altering the composition of imputation reference panels impacts imputation quality in four different Latin American cohorts, specifically analyzing chromosomes 7 and X.
  • Results show that increasing the number of Latin Americans in the reference leads to better imputation quality, while excluding them, as well as adjustments in European and African representation, affects quality differently across populations and chromosomes.
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Background: Many patients with chronic migraine do not achieve clinically meaningful improvement in their headache frequency with monotherapy. The burden associated with chronic migraine calls for a multifaceted treatment approach targeting multiple aspects of migraine pathophysiology.

Objective: The aim of this study was to evaluate the effect of concurrent anti-calcitonin gene-related peptide (CGRP) monoclonal antibody (mAb) and onabotulinumtoxinA (onabot) treatment on median monthly migraine days (MMD) in patients with chronic migraine, through a retrospective study.

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Macrodactyly, a often congenital anomaly, entails abnormal enlargement of digits, predominantly affecting hands or feet, either in isolation or as part of a syndromic condition. The authors present a case of Macrodystrophia Lipomatosa (ML), a form of macrodactyly, in a 62-year-old patient, emphasizing macrodactyly manifestations through clinical and radiological assessments. Additionally, the authors explore anatomical aspects related to nerve distribution in affected digits, providing a comprehensive understanding of ML.

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Until recently, about three-quarters of all monogenic Parkinson's disease (PD) studies were performed in European/White ancestry, thereby severely limiting our insights into genotype-phenotype relationships at global scale. The first systematic approach to embrace monogenic PD worldwide, The Michael J. Fox Foundation Global Monogenic PD (MJFF GMPD) Project, contacted authors of publications reporting individuals carrying pathogenic variants in known PD-causing genes.

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Article Synopsis
  • Many genetic studies about brain diseases mostly include participants of European ancestry, which is a problem for understanding these diseases better for everyone.
  • The goal of the research was to see how many participants from different backgrounds were included in studies about neurodegenerative diseases and to find out if that affects the results.
  • The findings showed that 82% of these studies were mainly European, and studies including non-European participants identified much fewer risk factors compared to the European-focused studies.
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