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1.
Neurogenetics ; 25(3): 157-164, 2024 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-38625441

RESUMO

Vascular risk factors, including diabetes, hypertension, hyperlipidemia, and obesity, pose significant health threats with implications extending to neuropsychiatric disorders such as stroke and Alzheimer's disease. The Asian population, in particular, appears to be disproportionately affected due to unique genetic predispositions, as well as epigenetic factors such as dietary patterns and lifestyle habits. Existing management strategies often fall short of addressing these specific needs, leading to greater challenges in prevention and treatment. This review highlights a significant gap in our understanding of the impact of genetic screening in the early detection and tailored treatment of vascular risk factors among the Asian population. Apolipoprotein, a key player in cholesterol metabolism, is primarily associated with dyslipidemia, yet emerging evidence suggests its involvement in conditions such as diabetes, hypertension, and obesity. While genetic variants of vascular risk are ethnic-dependent, current evidence indicates that epigenetics also exhibits ethnic specificity. Understanding the interplay between Apolipoprotein and genetics, particularly within diverse ethnic backgrounds, has the potential to refine risk stratification and enhance precision in management. For Caucasian carrying the APOA5 rs662799 C variant, pharmacological interventions are recommended, as dietary interventions may not be sufficient. In contrast, for Asian populations with the same genetic variant, dietary modifications are initially advised. Should dyslipidemia persist, the consideration of pharmaceutical agents such as statins is recommended.


Assuntos
Povo Asiático , Predisposição Genética para Doença , Humanos , Povo Asiático/genética , Fatores de Risco , Variação Genética , Apolipoproteínas/genética , Apolipoproteína A-V/genética , Doenças Vasculares/genética
2.
Clin Chim Acta ; 552: 117682, 2024 Jan 01.
Artigo em Inglês | MEDLINE | ID: mdl-38016627

RESUMO

Parkinson's Disease (PD) has witnessed an alarming rise in prevalence, highlighting the suboptimal nature of early diagnostic and therapeutic strategies. To address this issue, genetic testing has emerged as a potential avenue. In this comprehensive review, we have meticulously summarized the variants associated with PD in Asian populations. Our review reveals that these variants exert their influence on diverse biological pathways, encompassing the autophagy-lysosome pathway, cholesterol metabolism, circadian rhythm regulation, immune system response, and synaptic function. Conventionally, PD has been linked to other diseases; however, our findings shed light on a shared genetic susceptibility among these conditions, implying an underlying pathophysiological mechanism that unifies them. Moreover, it is noteworthy that these PD-associated variants can significantly impact drug responses during therapeutic interventions. This review not only provides a consolidated overview of the genetic variants associated with PD in Asian populations but also contributes novel insights into the intricate relationships between PD and other diseases by elucidating shared genetic components. These findings underscore the importance of personalized approaches in diagnosing and treating PD based on individual genetic profiles to optimize patient outcomes.


Assuntos
Doença de Parkinson , Humanos , Doença de Parkinson/diagnóstico , Doença de Parkinson/genética , Perfil Genético , Predisposição Genética para Doença , Testes Genéticos , Genômica
3.
Mol Biol Rep ; 50(11): 8949-8958, 2023 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-37707772

RESUMO

BACKGROUND: Type 2 diabetes mellitus (T2DM) is a metabolic disorder characterized by limited metabolic flexibility in the body. Such limitation implicates the pyruvate dehydrogenase kinase 4 (PDK4) gene Poor nutrition, frequently observed among Southeast Asians usually involves excessive intakes of carbohydrates and monosodium glutamate (MSG), that have been frequently linked to an increased risk of T2DM. METHODS: The 14-week study aimed to assess the effects of high-carbohydrate (HC), high-MSG (HMSG), and a combination of high-carbohydrate and high-MSG (HCHMSG) diets on the development of T2DM using male mice. To assess the effects, the male mice were divided into four groups: control (C), HC, HMSG, and HCHMSG for 14 weeks. RESULTS: After 14 weeks, both the HC and HCHMSG groups showed signs of T2DM (168.83 ± 32.33; 156.42 ± 32.46). The blood samples from the HMSG, HC, and HCHMSG groups (57.67 ± 2.882; 49.22 ± 7.36; 48.9 ± 6.43) as well as skeletal muscle samples from the HMSG, HC, and HCHMSG groups (57.78 ± 8.54; 42.13 ± 7.25; 37.57 ± 10.42) exhibited a gradual hypomethylation. The HC groups particularly displayed significant PDK4 gene expression in skeletal muscle. A progressive overexpression of the PDK4 gene was observed as well in the HMSG, HCHMSG, and HC groups (2.03 ± 3.097; 3.21 ± 2.94; 5.86 ± 2.54). CONCLUSIONS: These findings suggest that T2DM can be induced by high-carbohydrate and high-MSG diets. However, the sole consumption of high MSG did not lead to the development of T2DM. Further research should focus on conducting long-term studies to fully comprehend the impact of a high MSG diet on individuals with pre-existing T2DM.


Assuntos
Diabetes Mellitus Tipo 2 , Masculino , Camundongos , Animais , Diabetes Mellitus Tipo 2/genética , Diabetes Mellitus Tipo 2/metabolismo , Glutamato de Sódio , Dieta , Carboidratos
4.
Clin Chim Acta ; 549: 117527, 2023 Sep 01.
Artigo em Inglês | MEDLINE | ID: mdl-37666385

RESUMO

The increasing incidence of ischemic stroke emphasizes the necessity for early detection and preventive strategies. Diagnostic biomarkers currently available for ischemic stroke only become detectable shortly before the manifestation of stroke symptoms. Genetic variants associated with ischemic stroke offer a potential solution to address this diagnostic limitation. However, it is crucial to acknowledge that genetic variants cannot be modified in the same way as epigenetic changes. Nevertheless, individuals carrying risk or protective variants can modify their lifestyle to potentially influence the associated epigenetic factors. This study aims to summarize specific variants relevant to Asian populations that may aid in the early detection of ischemic stroke and explore their impact on the disease's pathophysiology. These variants give us important information about the genes that play a role in ischemic stroke by affecting things like atherosclerosis pathway, blood coagulation pathway, homocysteine metabolism, transporter function, transcription, and the activity of neurons regulation. It is important to recognize the variations in genetic variants among different ethnicities and avoid generalizing the pathogenesis of ischemic stroke.


Assuntos
Aterosclerose , Isquemia Encefálica , AVC Isquêmico , Acidente Vascular Cerebral , Humanos , AVC Isquêmico/complicações , Predisposição Genética para Doença , Polimorfismo Genético/genética , Acidente Vascular Cerebral/metabolismo , Aterosclerose/complicações , Polimorfismo de Nucleotídeo Único , Isquemia Encefálica/genética , Isquemia Encefálica/complicações , Estudos de Casos e Controles
5.
Clin Chim Acta ; 546: 117389, 2023 Jun 01.
Artigo em Inglês | MEDLINE | ID: mdl-37211175

RESUMO

Alzheimer's disease (AD) is on the rise worldwide. Generally, AD is considered neurodegenerative when the production and clearance of amyloid-ß (Aß) are imbalanced. Recent research on genome-wide association studies (GWAS) has been explosive; GWAS indicates a relationship between single nucleotide polymorphism (SNP) and AD. GWAS also reveals ethnic differences between Caucasians and Asians. This indicates that pathogenesis between ethnic groups is distinct. According to current scientific knowledge, AD is a disease with a complex pathogenesis that includes impaired neuronal cholesterol regulation, immunity regulation, neurotransmitters regulation, Aß clearance, Aß production, and vascular regulation. Here, we demonstrate the pathogenesis of AD in an Asian population and the SNP risk of AD for future AD screening before onset. According to our knowledge, this is the first review of Alzheimer's disease to demonstrate the pathogenesis of AD based on SNP in an Asian population.


Assuntos
Doença de Alzheimer , Humanos , Doença de Alzheimer/genética , Doença de Alzheimer/patologia , Asiático , Estudo de Associação Genômica Ampla , Peptídeos beta-Amiloides , Povo Asiático/genética
6.
Clin Chim Acta ; 539: 191-197, 2023 Jan 15.
Artigo em Inglês | MEDLINE | ID: mdl-36549639

RESUMO

Cancer-associated necrosis is a well-known source of cell-free DNA (cfDNA). However, the origins of cfDNA are not strictly limited to cancer. Additionally, dietary exposure induces apoptosis-induced proliferation in adipocytes, leading to the release of cfDNA. The genetic information derived from cfDNA as a result of apoptosis-induced proliferation contains specific methylation patterns in adipose tissue that can be used as a marker to detect the risk of developing Type 2 diabetes Mellitus (T2DM) in the future. cfDNA is superior to peripheral blood leukocytes (PBL) and whole blood samples for reflecting tissue pathology due to the frequent use of PBL and whole blood samples that do not match tissue pathology. The difficulty of demonstrating that cfDNA is derived from adipose tissue. We propose several promising techniques by analyzing cfDNA derived from adipose tissue to detect T2DM risk. First, adipose-specific genes such as ADIPOQ and Leptin were utilized. Second, MCTA-Seq, EpiSCORE, deconvolution, multiplexing, and automated machine learning (AutoML) were used to determine the proportion of total methylation in related genes.


Assuntos
Ácidos Nucleicos Livres , Diabetes Mellitus Tipo 2 , Humanos , Diabetes Mellitus Tipo 2/genética , Ácidos Nucleicos Livres/genética , Metilação de DNA , Obesidade/genética , Apoptose
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