Nadine J. Makhoul

ORCID: 0009-0006-6870-2262
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About
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Research Areas
  • Biochemical Analysis and Sensing Techniques
  • Regulation of Appetite and Obesity
  • Sphingolipid Metabolism and Signaling
  • Liver Disease Diagnosis and Treatment
  • Lysosomal Storage Disorders Research
  • Fatty Acid Research and Health
  • Diet, Metabolism, and Disease
  • Endoplasmic Reticulum Stress and Disease
  • Genetics and Neurodevelopmental Disorders
  • Iron Metabolism and Disorders
  • Race, Genetics, and Society
  • Calcium signaling and nucleotide metabolism
  • Forensic and Genetic Research
  • Genomic variations and chromosomal abnormalities
  • Autism Spectrum Disorder Research
  • Nuclear Receptors and Signaling
  • Adipose Tissue and Metabolism
  • Cellular transport and secretion
  • Glaucoma and retinal disorders
  • Diet and metabolism studies
  • Retinoids in leukemia and cellular processes
  • Nutrition, Genetics, and Disease
  • Cassava research and cyanide
  • Animal Disease Management and Epidemiology
  • Ocular Diseases and Behçet’s Syndrome

American University of Beirut Medical Center
2015-2025

American University of Beirut
2005-2023

King Faisal Specialist Hospital & Research Centre
2008-2013

Lebanese American University
2008-2010

Lebanon is an eastern Mediterranean country inhabited by approximately four million people with a wide variety of ethnicities and religions, including Muslim, Christian, Druze. In the present study, 926 Lebanese men were typed Y-chromosomal SNP STR markers, unusually, male genetic variation within was found to be more strongly structured religious affiliation than geography. We therefore tested hypothesis that migrations historical times could have contributed this situation. Y-haplogroup...

10.1016/j.ajhg.2008.01.020 article EN cc-by The American Journal of Human Genetics 2008-04-01

Recent evidence suggests that the effects of certain food additives may be synergistic or additive. Aspartame (ASP) and Monosodium Glutamate (MSG) are ubiquitous with a common moiety: both contain acidic amino acids which can act as neurotransmitters, interacting NMDA receptors concentrated in areas Central Nervous System regulating energy expenditure conservation. MSG has been shown to promote neuroendocrine dysfunction when large quantities administered mammals during neonatal period. ASP...

10.1186/1743-7075-9-58 article EN cc-by Nutrition & Metabolism 2012-01-01

The effects of dietary monosodium glutamate (MSG) on trans-fatty acid (TFA)-induced nonalcoholic fatty liver disease (NAFLD) are addressed in an animal model. We used Affymetrix microarray analysis to investigate hepatic gene expression and the contribution visceral white adipose tissue (WAT) diet-induced NAFLD. Trans-fat feeding increased serum leptin, FFA, HDL-cholesterol (HDL-C), total cholesterol (T-CHOL) levels, while robustly elevating genes involved lipogenesis, including...

10.1194/jlr.m800418-jlr200 article EN cc-by Journal of Lipid Research 2008-11-12

Nonalcoholic fatty liver disease (NAFLD) is associated with obesity and insulin resistance. It also a predisposing factor for type 2 diabetes. Dietary factors are believed to contribute all three diseases. NAFLD characterized by increased intrahepatic fat mitochondrial dysfunction, its etiology may be attributed excessive fructose intake. Consumption of high corn syrup‐55 (HFCS‐55) stands at up 15% the average total daily energy intake in United States, linked weight gain obesity. The aim...

10.1038/oby.2009.58 article EN Obesity 2009-03-12

Previous studies have linked aspartame consumption to impaired retention of learned behavior in rodents. Prenatal exposure has also been shown impair odor-associative learning guinea pigs; and recently, aspartame-fed hyperlipidemic zebrafish exhibited weight gain, hyperglycemia acute swimming defects. We therefore investigated the effects chronic lifetime aspartame, commencing utero, on changes blood glucose parameters, spatial memory C57BL/6J mice. Morris Water Maze (MWM) testing was used...

10.1371/journal.pone.0031570 article EN cc-by PLoS ONE 2012-04-03

It has previously been shown that patients with nonalcoholic fatty liver disease (NAFLD) exhibit alterations in both hepatic and adipose tissue metabolism, the dietary factors contribute to pathogenesis of NAFLD are likely be multifactorial. Using C57BL/6J mice, we examined whether chronic exposure low-dose monosodium glutamate (MSG), high-fructose corn syrup (HFCS), or a combination two, vs. control would affect metabolism visceral fat gene expression adult male progeny. A maternal diet...

10.1038/oby.2009.502 article EN Obesity 2010-01-28

Abstract Breast cancer is commonest in women worldwide. Elucidation of underlying biology and molecular pathways necessary for improving therapeutic options clinical outcomes. Molecular alterations breast are complex involve cross-talk between multiple signaling pathways. The aim this study to extract a unique mRNA fingerprint Lebanese using microarray technologies. Gene-expression profiles 94 fresh tissue samples (84 cancerous/10 non-tumor adjacent samples) were analyzed GeneChip Human...

10.1038/srep36639 article EN cc-by Scientific Reports 2016-11-18

Most cases of juvenile-onset diabetes (JOD) are diagnosed as type 1 (T1D), for which genetic studies conducted in outbred Caucasian populations support the concept multifactorial inheritance. However, this view may be partly challenged particular population settings. In suggestive evidence a high prevalence Wolfram syndrome (WFS) Lebanon, phenotypic variability associated with WFS1 mutations, and consanguinity rate we aimed to evaluate contribution mutations monogenic determinants JOD...

10.1093/hmg/ddn304 article EN Human Molecular Genetics 2008-09-20

Autism Spectrum Disorders (ASDs) are a group of neurodevelopmental disorders characterized by ritualistic-repetitive behaviors and impaired verbal non-verbal communication. Objectives were to determine the contribution genetic variation ASDs in Lebanese. Affymetrix Cytogenetics Whole-Genome 2.7 M CytoScan(™) HD Arrays used detect CNVs 41 Lebanese autistic children 35 non-autistic, developmentally delayed intellectually disabled patients. 33 normal participants as controls. 16 de novo 57...

10.1038/srep19088 article EN cc-by Scientific Reports 2016-01-08

Neuronal ceroid lipofuscinoses (NCLs) are a group of autosomal recessive neurogenetic disorders caused by mutations in 14 different genes. CLN6 disease manifests as variant late-infantile NCL (vLINCL) or an adult variant. In childhood, symptoms include speech delay, vision loss, cognitive and motor decline, seizures, early death. An in-depth characterization naturally occurring Cln6 mutant mouse (Cln6nclf) is presented, with implications for translational research. The expanded phenotype...

10.3390/cells14090661 article EN cc-by Cells 2025-04-30

Beta thalassemia is an autosomal recessive disorder characterized by reduced (beta(+)) or absent (beta(0)) beta-globin chain synthesis. In Lebanon it the most predominant genetic defect. this study we investigated religious and geographic distribution of beta-thalassemia mutations identified in Lebanon, traced their precise origins. A total 520 chromosomes from patients different regional backgrounds was studied. were using Amplification Refractory Mutation System (ARMS) PCR direct gene...

10.1046/j.1529-8817.2004.00138.x article EN Annals of Human Genetics 2005-01-01

Human T-cell lymphotropic virus type I (HTLV-I) associated adult leukemia/lymphoma (ATLL) is endemic in southern Japan, the Caribbean, intertropical Africa, and Brazil. Recently north east Iran, particularly region of Mashhad, has been recognized as a new region. ATLL an aggressive lymphoproliferative disorder. Patients with have high plasma levels VEGF that induce angiogenesis. Prognosis remains poor because immunosuppression intrinsic resistance to chemotherapy. Important advances...

10.1080/10428190601071717 article EN Leukemia & lymphoma/Leukemia and lymphoma 2007-01-01

The incidence of obesity and type 2 diabetes mellitus (T2DM) is increasing, new experimental models are required to investigate the diverse aspects these polygenic diseases, which intimately linked in terms aetiology. Feline T2DM has been shown closely resemble human its clinical, pathological physiological features. Our aim was develop a feline model diet-induced weight gain, adiposity metabolic deregulation, examine correlates body fat change, insulin homeostasis, lipid profile, adipokines...

10.1017/s000711451000588x article EN British Journal Of Nutrition 2011-03-24

The human diet has altered markedly during the past four decades, with introduction of Trans hydrogenated fat, which extended shelf-life dietary oils and promoted a dramatic increase in elaidic acid (Trans-18.1) consumption. Food additives such as monosodium glutamate (MSG) aspartame (ASP) were introduced to food palatability reduce caloric intake. Nutrigenomics studies small-animal models are an established platform for analyzing interactions between various macro- micronutrients. We...

10.1186/1743-7075-10-44 article EN cc-by Nutrition & Metabolism 2013-01-01

A paucity of information on biological sex-specific differences in cardiac gene expression response to diet has prompted this present nutrigenomics investigation. Sexual dimorphism exists the physiological and transcriptional diet, particularly high-fat feeding. Consumption Trans-fatty acids (TFA) been linked substantially increased risk heart disease, which sexual is apparent, with males suffering a higher disease rate. Impairment cardiovascular system noted animals exposed Monosodium...

10.1186/1471-2164-12-555 article EN cc-by BMC Genomics 2011-11-12

Breast cancer is the most common in women worldwide. Elucidation of underlying biology and molecular pathways necessary for improving therapeutic options clinical outcomes. CLN3 protein (CLN3p), deficient neurodegenerative disease anti-apoptotic, defects gene cause accelerated apoptosis neurons upregulation ceramide. Dysregulated apoptotic are often implicated development oncogenic phenotype. Predictably, mRNA expression were upregulated a number human murine breast cell lines. Here, we...

10.3389/fonc.2015.00215 article EN cc-by Frontiers in Oncology 2015-10-12

Beta-thalassemia is the most common genetic disorder in Lebanese population. Of 200 different mutations beta-globin gene that leads to thalassemia, IVSI-110 (29.87%), IVSI-6 (20.74%), IVSI-1 (14.07%), IVSII-1 (9.13%), Cd29 and Cd30 (3.95%) are frequent among thalassemic patients. These also present at high frequencies East Mediterranean region. Due this prevalence of certain beta-thalassemia mutations, a rapid technique for prenatal diagnosis these was implemented. The used based on...

10.1002/ajh.20013 article EN American Journal of Hematology 2004-03-25

Objective CLN3 disease is the commonest of neuronal ceroid lipofuscinoses, a group pediatric neurodegenerative disorders. Functions protein include antiapoptotic properties and facilitating anterograde transport galactosylceramide from Golgi to lipid rafts. This study confirms beneficial effects long‐term exogenous supplementation on longevity, neurobehavioral parameters, cell counts, astrogliosis, diminution in brain serum ceramide levels Cln3 Δex7/8 knock‐in mice. Additionally, impact...

10.1002/ana.25573 article EN Annals of Neurology 2019-08-08

Mutations were previously identified in the CYP1B1 gene six out of 18 Lebanese families (33%) with primary congenital glaucoma (PCG). The purpose this study is to determine frequency and type pathogenic mutations other genes compare populations using whole-exome sequencing perform genotype-phenotype correlations.Twelve PCG patients negative for CYP1B1/MYOC subjected sequencing. Targeted screening glaucoma-associated was performed. Candidate variants verified by Sanger evaluated family...

10.1080/13816810.2023.2189949 article EN Ophthalmic Genetics 2023-03-30

Background Mutations in genes regulating lipid metabolism, vasoactivity, and coagulation are important modulators of coronary artery disease (CAD). Objective This study investigated the association between allelic variants angiotensin converting enzyme (ACE), methytetrahydrofolate reductase, plasminogen activator inhibitor-1 factor V CAD. Methods Clinical, biochemical, angiographic information were collected from 300 patients who underwent cardiac catheterization their DNA was genotyped by...

10.1097/mca.0b013e328335a042 article EN Coronary Artery Disease 2010-03-18

Abstract Autism spectrum disorder (ASD) is characterized by ritualistic-repetitive behaviors and impaired verbal/non-verbal communication. Many ASD susceptibility genes implicated in neuronal pathways/brain development have been identified. The Lebanese population ideal for uncovering recessive because of shared ancestry a high rate consanguineous marriages. Aims here are to analyze published uncover novel inherited specific the Lebanese. We recruited 36 families (ASD: 37, unaffected...

10.1038/srep45336 article EN cc-by Scientific Reports 2017-03-30

Objectives Quantitative Fluorescent PCR (QF-PCR) is a simpler and faster method of detecting common chromosomal abnormalities when compared to cytogenetic analysis. The aim our study investigate the applicability this methodology in population where consanguineous marriages are estimate heterozygous frequency markers used. Methods Four hundred twenty-three DNA samples were extracted from uncultured amniocytes amplified with 18 short tandem repeats (STR) specific chromosomes 13, 21....

10.1002/pd.1424 article EN Prenatal Diagnosis 2006-01-01
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