scholarly journals Molecular and Metabolic Pathogenesis of Familial Combined Hyperlipidemia and Association with Metabolic Syndrome

2019 ◽  
Vol 1 (3) ◽  
pp. 34-45
Author(s):  
Sikandar Hayat Khan
Keyword(s):  
Metabolic Syndrome ◽  
Metabolic Pathways ◽  
Genetic Defect ◽  
Genetic Defects ◽  
Familial Combined Hyperlipidemia ◽  
Apo B ◽  
Molecular Defects ◽  
Adipose Tissue Dysfunction ◽  
Defective Clearance ◽  
Chromosome 1Q21

Background The objective of this review is to unify the various genetic defects along with elaborating metabolic pathways in Familial Combined Hyperlipidemia(FCHL) and also to differentiate the phenotype of FCHL from metabolic syndrome. Methods PubMed and Cochrane’s library was searched for keyword “Familial combined hyperlipidemia” and latter with “Familial combined hyperlipidemia genes” to finally shortlist 23 articles. Further search with key words “molecular pathogenesis of familial combined hyperlipidemia” and “metabolic syndrome and familial combined hyperlipidemia” was carried out for finding molecular defects in FCHL, non-molecular findings distinguishing FCHL from metabolic syndrome and overlapping features between FCHL and metabolic syndrome. Results Major culprit regions identified included Chromosome-1q21-q24(USF1 and FOXA2) , Ch-11q (APOA5), Ch-16q24, Ch-20q12-q13.1, Ch.4q32.3 (rs6829588), and Ch-19q13.32 containing PVRL-2 gene (Also known as Nectin-2). The genetic and metabolic pathways linked to FCHL may involve: 1-Defective clearance of Apo-B containing lipoproteins, 2-Overproduction of Apo-B containing lipoprotein i.e., VLDL and 3-Adipose tissue dysfunction. FCHL phenotype showed close resemblance with metabolic syndrome clinical and biochemical features with slight differences. Conclusion The reviewed data suggested that FCHL phenotype is the resultant end outcome from multiple molecular defects and thus underlying genetic defect identification in the index case is important for personalized medicine and incoming gene therapy. Further research is warranted to explore specific genetic defects.

Contribution of Chromosome 1q21-q23 to Familial Combined Hyperlipidemia in Mexican Families

2004 ◽  
Vol 68 (5) ◽  
pp. 419-427 ◽  
Author(s):  
A. Huertas-Vázquez ◽  
J. P. del Rincón ◽  
S. Canizales-Quinteros ◽  
L. Riba ◽  
G. Vega-Hernández ◽  
...  
Keyword(s):  
Familial Combined Hyperlipidemia ◽  
Mexican Families ◽  
Chromosome 1Q21

Rat model of familial combined hyperlipidemia as a result of comparative mapping

2004 ◽  
Vol 17 (1) ◽  
pp. 38-47 ◽  
Author(s):  
Takahiro Ueno ◽  
Johanne Tremblay ◽  
Jaroslav Kunes ◽  
Josef Zicha ◽  
Zdenka Dobesova ◽  
...  
Keyword(s):  
Metabolic Syndrome ◽  
Comparative Mapping ◽  
Clinical Characteristics ◽  
Syntenic Region ◽  
Chromosome 2 ◽  
Familial Combined Hyperlipidemia ◽  
Small Dense Ldl ◽  
Plasma Triglycerides ◽  
The Metabolic Syndrome ◽  
Close Relationship

Total genome scan was carried out in 266 F2 intercrosses from the Prague hypertriglyceridemic (HTG) rat that shares several clinical characteristics with human metabolic syndrome. Two loci for plasma triglycerides (TG) were localized on chromosome 2 (Chr 2) (LOD 4.4, 3.2). The first locus overlapped with the rat syntenic region of the human locus for the metabolic syndrome and for small, dense LDL, while the second overlapped with the syntenic region of another locus for small, dense LDL in humans by the comparative mapping approach. Loci for TG on rat Chr 13 (LOD 3.3) and Chr 1 (LOD 2.7) overlapped with the syntenic region of loci for human familial combined hyperlipidemia (FCHL) in Finnish and Dutch populations, respectively. The concordances of loci for TG localized in this study with previously reported loci for FCHL and its related phenotypes are underlying the generalized importance of these loci in dyslipidemia. These data suggest the close relationship between dyslipidemia in HTG rats and human FCHL, establishing a novel animal model for exploration of pathophysiology and therapy based on genomic determinants.

scholarly journals Adipose tissue in control of metabolism

2016 ◽  
Vol 231 (3) ◽  
pp. R77-R99 ◽  
Author(s):  
Liping Luo ◽  
Meilian Liu
Keyword(s):  
Adipose Tissue ◽  
Metabolic Pathways ◽  
The Body ◽  
The Other ◽  
Whole Body ◽  
Endocrine Organ ◽  
Lipid Mobilization ◽  
Adipose Tissue Dysfunction ◽  
Body Energy ◽  
Beige Adipose Tissue

Adipose tissue plays a central role in regulating whole-body energy and glucose homeostasis through its subtle functions at both organ and systemic levels. On one hand, adipose tissue stores energy in the form of lipid and controls the lipid mobilization and distribution in the body. On the other hand, adipose tissue acts as an endocrine organ and produces numerous bioactive factors such as adipokines that communicate with other organs and modulate a range of metabolic pathways. Moreover, brown and beige adipose tissue burn lipid by dissipating energy in the form of heat to maintain euthermia, and have been considered as a new way to counteract obesity. Therefore, adipose tissue dysfunction plays a prominent role in the development of obesity and its related disorders such as insulin resistance, cardiovascular disease, diabetes, depression and cancer. In this review, we will summarize the recent findings of adipose tissue in the control of metabolism, focusing on its endocrine and thermogenic function.

Homocysteine is the confounding factor of metabolic syndrome-confirmed by siMS score

2018 ◽  
Vol 33 (2) ◽  
pp. 99-103 ◽  
Author(s):  
Branko Srećković ◽  
Ivan Soldatovic ◽  
Emina Colak ◽  
Igor Mrdovic ◽  
Mirjana Sumarac-Dumanovic ◽  
...  
Keyword(s):  
Oxidative Stress ◽  
Insulin Resistance ◽  
Metabolic Syndrome ◽  
Risk Score ◽  
Continuous Measure ◽  
Model Assessment ◽  
Anthropometric Parameters ◽  
Apo B ◽  
Significant Difference ◽  
Homeostatic Model Assessment

Abstract Background: Abdominal adiposity has a central role in developing insulin resistance (IR) by releasing pro-inflammatory cytokines. Patients with metabolic syndrome (MS) have higher values of homocysteine. Hyperhomocysteinemia correlates with IR, increasing the oxidative stress. Oxidative stress causes endothelial dysfunction, hypertension and atherosclerosis. The objective of the study was to examine the correlation of homocysteine with siMS score and siMS risk score and with other MS co-founding factors. Methods: The study included 69 obese individuals (age over 30, body mass index [BMI] >25 kg/m2), classified into two groups: I-with MS (33 patients); II-without MS (36 patients). Measurements included: anthropometric parameters, lipids, glucose regulation parameters and inflammation parameters. IR was determined by homeostatic model assessment for insulin resistance (HOMA-IR). ATP III classification was applied for diagnosing MS. SiMS score was used as continuous measure of metabolic syndrome. Results: A significant difference between groups was found for C-reactive protein (CRP) (p<0.01) apolipoprotein (Apo) B, HOMA-IR and acidum uricum (p<0.05). siMS risk score showed a positive correlation with homocysteine (p=0.023), while siMS score correlated positively with fibrinogen (p=0.013), CRP and acidum uricum (p=0.000) and homocysteine (p=0.08). Homocysteine correlated positively with ApoB (p=0.036), HbA1c (p=0.047), HOMA-IR (p=0.008) and negatively with ApoE (p=0.042). Conclusions: Correlation of siMS score with homocysteine, fibrinogen, CRP and acidum uricum indicates that they are co-founding factors of MS. siMS risk score correlation with homocysteine indicates that hyperhomocysteinemia increases with age. Hyperhomocysteinemia is linked with genetic factors and family nutritional scheme, increasing the risk for atherosclerosis.

scholarly journals Genetic disorders in the GH–IGF-I axis in mouse and man

2007 ◽  
Vol 157 (suppl_1) ◽  
pp. S15-S26 ◽  
Author(s):  
M J E Walenkamp ◽  
J M Wit
Keyword(s):  
Short Stature ◽  
Genetic Disorders ◽  
Genetic Defect ◽  
Postnatal Growth ◽  
Genetic Defects ◽  
Animal Data ◽  
Organ Systems ◽  
Number Of Patients ◽  
Igf I ◽  
And Function

Animal knockout experiments have offered the opportunity to study genes that play a role in growth and development. In the last few years, reports of patients with genetic defects in GH–IGF-I axis have greatly increased our knowledge of genetically determined causes of short stature. We will present the animal data and human reports of genetic disorders in the GH–IGF-I axis in order to describe the role of the GH–IGF-I axis in intrauterine and postnatal growth. In addition, the effects of the GH–IGF-I axis on the development and function of different organ systems such as brain, inner ear, eye, skeleton, glucose homeostasis, gonadal function, and immune system will be discussed. The number of patients with genetic defects in the GH–IGF-I axis is small, and a systematic diagnostic approach and selective genetic analysis in a patient with short stature are essential to identify more patients. Finally, the implications of a genetic defect in the GH–IGF-I axis for the patient and the therapeutic options will be discussed.

Familial Combined Hyperlipidemia, Metabolic Syndrome and Cardiovascular Disease

2006 ◽  
Vol 59 (11) ◽  
pp. 1195-1198
Author(s):  
Sergio Martinez-Hervás ◽  
José T. Real ◽  
Antonia Priego ◽  
Javier Sanz ◽  
Jose M. Martín ◽  
...  
Keyword(s):  
Cardiovascular Disease ◽  
Metabolic Syndrome ◽  
Familial Combined Hyperlipidemia

scholarly journals Effect of High‐Sucrose and High‐Fructose Diets on Adipose Tissue Dysfunction and Metabolic Syndrome

2018 ◽  
Vol 32 (S1) ◽  
Author(s):  
Anil Sakamuri ◽  
Sugeedha Jeyapal ◽  
Suryam Reddy Kona ◽  
Sailaja Pothana ◽  
Ahamed Ibrahim
Keyword(s):  
Metabolic Syndrome ◽  
Adipose Tissue ◽  
Adipose Tissue Dysfunction ◽  
High Fructose ◽  
High Sucrose
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