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1.
Mov Disord ; 37(8): 1593-1604, 2022 08.
Artigo em Inglês | MEDLINE | ID: mdl-35867623

RESUMO

BACKGROUND: Human genetics research lacks diversity; over 80% of genome-wide association studies have been conducted on individuals of European ancestry. In addition to limiting insights regarding disease mechanisms, disproportionate representation can create disparities preventing equitable implementation of personalized medicine. OBJECTIVE: This systematic review provides an overview of research involving Parkinson's disease (PD) genetics in underrepresented populations (URP) and sets a baseline to measure the future impact of current efforts in those populations. METHODS: We searched PubMed and EMBASE until October 2021 using search strings for "PD," "genetics," the main "URP," and and the countries in Latin America, Caribbean, Africa, Asia, and Oceania (excluding Australia and New Zealand). Inclusion criteria were original studies, written in English, reporting genetic results on PD from non-European populations. Two levels of independent reviewers identified and extracted information. RESULTS: We observed imbalances in PD genetic studies among URPs. Asian participants from Greater China were described in the majority of the articles published (57%), but other populations were less well studied; for example, Blacks were represented in just 4.0% of the publications. Also, although idiopathic PD was more studied than monogenic forms of the disease, most studies analyzed a limited number of genetic variants. We identified just nine studies using a genome-wide approach published up to 2021, including URPs. CONCLUSION: This review provides insight into the significant lack of population diversity in PD research highlighting the immediate need for better representation. The Global Parkinson's Genetics Program (GP2) and similar initiatives aim to impact research in URPs, and the early metrics presented here can be used to measure progress in the field of PD genetics in the future. © 2022 International Parkinson and Movement Disorder Society.


Assuntos
Doença de Parkinson , China , Previsões , Estudo de Associação Genômica Ampla , Humanos , Nova Zelândia , Doença de Parkinson/epidemiologia , Doença de Parkinson/genética
2.
Metab Brain Dis ; 36(3): 361-374, 2021 03.
Artigo em Inglês | MEDLINE | ID: mdl-33411216

RESUMO

This review paper investigates a specific environmental-disease interaction between mercury exposure and Alzheimer's disease hallmarks. Alzheimer's disease is a neurodegenerative disorder affecting predominantly the memory of the affected individual. It prevails mostly in the elderly, rendering many factors as possible causative agents, which potentially contribute to the disease pathogenicity cumulatively. Alzheimer's disease affects nearly 50 million people worldwide and is considered one the most devastating diseases not only for the patient, but also for their families and caregivers. Mercury is a common environmental toxin, found in the atmosphere mostly due to human activity, such as coal burning for heating and cooking. Natural release of mercury into the atmosphere occurs by volcanic eruptions, in the form of vapor, or weathering rocks. The most toxic form of mercury to humans is methylmercury, to which humans are exposed to by ingestion of fish. Methylmercury was found to exert its toxic effects on different parts of the human body, with predominance on the brain. There is no safe concentration for mercury in the atmosphere, even trace amounts can elicit harm to humans in the long term. Mercury's effect on Alzheimer's disease hallmarks formation, extracellular senile plaques and intracellular neurofibrillary tangles, has been widely studied. This review demonstrates the involvement of mercury, in its different forms, in the pathway of amyloid beta deposition and tau tangles formation. It aims to understand the link between mercury exposure and Alzheimer's disease so that, in the future, prevention strategies can be applied to halt the progression of this disease.


Assuntos
Doença de Alzheimer/etiologia , Exposição Ambiental/efeitos adversos , Mercúrio/toxicidade , Compostos de Metilmercúrio/toxicidade , Doença de Alzheimer/metabolismo , Encéfalo/metabolismo , Humanos , Emaranhados Neurofibrilares/metabolismo , Neurônios/metabolismo
3.
Metab Brain Dis ; 36(7): 1545-1557, 2021 10.
Artigo em Inglês | MEDLINE | ID: mdl-34370175

RESUMO

Parkinson's disease (PD) is one of the most common progressive neurodegenerative diseases. It is characterized neuropathologically by the presence of alpha-synuclein containing Lewy Bodies in the substantia nigra of the brain with loss of dopaminergic neurons in the pars compacta of the substantia nigra. The presence of alpha-synuclein aggregates in the substantia nigra and the enteric nervous system (ENS) drew attention to the possibility of a correlation between the gut microbiota and Parkinson's disease. The gut-brain axis is a two-way communication system, which explains how through the vagus nerve, the gut microbiota can affect the central nervous system (CNS), including brain functions related to the ENS, as well as how CNS can alter various gut secretions and immune responses. As a result, this dysbiosis or alteration in gut microbiota can be an early sign of PD with reported changes in short chain fatty acids, bile acids, and lipids. This gave rise to the use of probiotics and faecal microbiota transplantation as alternative approaches to improve the symptoms of patients with PD. The aim of this review is to discuss investigations that have been done to explore the gastrointestinal involvement in Parkinson's disease, the effect of dysbiosis, and potential therapeutic strategies for PD.


Assuntos
Eixo Encéfalo-Intestino/fisiologia , Microbioma Gastrointestinal/fisiologia , Doença de Parkinson/etiologia , Antibacterianos/uso terapêutico , Disbiose/complicações , Ácidos Graxos Voláteis/fisiologia , Transplante de Microbiota Fecal , Microbioma Gastrointestinal/efeitos dos fármacos , Humanos , Lipídeos/fisiologia , Doença de Parkinson/tratamento farmacológico , Probióticos/uso terapêutico , alfa-Sinucleína/fisiologia
4.
Front Glob Womens Health ; 2: 669826, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34816221

RESUMO

Breastfeeding, given its biochemical and physiological basis, is known for its many benefits for both the lactating mother and the infant. Among the many challenges new breastfeeding mothers experience is the feeling of aversion in response to their newborn's suckling which has been termed dysphoric milk-ejection reflex (D-MER). Characterized by intense feelings of dysphoria which may eventually interfere with the mother's ability to breastfeed regularly, evidence suggests both the neurobiological and psychological basis of D-MER in an attempt to explain its complexity. Biologically, breastfeeding is expressed by the intracerebral release of oxytocin, an increased expression of oxytocin receptors in specific brain regions, increased mesocorticolimbic reward region activation, the secretion of prolactin and possibly the inhibition of dopamine. Hence, different theories explain D-MER in terms of disrupted neurotransmitter and hormonal activity. Breastfeeding has also proven to influence mood and stress reactivity in nursing mothers with a potential link with postpartum depression. Psychological theories attempt to explain D-MER from a sociopsychosexual lense shedding light on the significance of mother-infant attachment, the sexualization of the female body and the motherhood experience as a developmental stage in a woman's lifespan. The aim of this review is to provide a literature update of D-MER incorporating both neurobiological and psychological theories calling for raising awareness about the complexity of breastfeeding and for the need for mother-centered interventions for the management of D-MER and other postpartum-specific conditions.

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