Association of DNA damage and dyslipidemia with polycystic ovarian syndrome

Polycystic ovary syndrome (PCOS) is associated with hyperinsuli-nemia and insulin resistance which may lead to cardiovascular diseases. Evidence for cardiovascular events in women who were affected by PCOS during fertile age is limited. The pathogenesis is unknown; however, it is a complex multigenetic disorder. The present study was undertaken to evaluate the various cardiovas-cular risk factors and their DNA repair efficiency in women with PCOS by investigating the biochemical, endocrinological and mo-lecular cytogenetic alterations. These investigations were carried out in 116 women in the age group of 15-35 years clinically diag-nosed with PCOS. Data were compared with that of 50 age-matched healthy normal women. Fasting blood sugar (FBS), Lipid profile, Follicle-Stimulating Hormone (FSH) and Luteinizing Hor-mone (LH), Prolactin and Estradiol were estimated after getting the informed consent. Mutagen induced chromosome sensitivity analysis was carried out in the lymphocytes of the subjects to as-sess the DNA repair proficiency. Fasting Blood Sugar, total cho-lesterol and LDL cholesterol were found to be elevated whereas HDL cholesterol was found to be lowered in the test subjects. FSH, LH and prolactin were also found to be significantly elevated in the test subjects. Change in the estradiol concentration in the test subjects was not significant. The mutagen sensitivity analysis revealed a significant elevation in break per cell (b/c) values indi-cating a deficiency in the DNA repair mechanism / DNA damage in PCOS patients. Modification of life style by changing the dietary habit and sedentary life style will help to reduce the oxidative stress and may increase the ovarian function and a sensible life-style management is recommended for reducing the risk for CVD

Multifactorial Aspects of Adiponectin in Non- Alcoholic Fatty Liver Disease

Non-alcoholic fatty liver disease (NAFLD) is a significant worldwide health issue strongly associated with obesity and metabolic syndrome. It underscores the critical role of adiponectin, a significant adipokine, in the disease's intricate progression. NAFLD's complexity stems from its interplay with factors like obesity, diabetes, and metabolic syndrome, with reduced adiponectin levels commonly observed in NAFLD patients, influenced by age, gender, lipid profiles, and insulin resistance. Adiponectin's versatility in mitigating insulin resistance, inflammation, and liver fibrosis makes it a focal point in NAFLD research, while recent studies introduce spexin, a neuropeptide, as a potential correlate, adding to the understanding of metabolic disorders. To tailor treatment approaches, recognizing the factors affecting adiponectin levels, such as genetics, lifestyle, and comorbidities, is crucial. Lifestyle changes and specific medications offer promise in improving NAFLD outcomes by modulating adiponectin. The article underscores adiponectin's central role in the complex NAFLD landscape and the need for further research to fully grasp its mechanisms and therapeutic potential in managing this prevalent liver disease, emphasizing the importance of rebalancing adipokines and enhancing metabolic health

TSH Receptor Gene and Autoimmune Thyroid Diseases

The primary regulators of thyroid activity are the thyroid-stimulating hormone (TSH) and its receptor (TSH-R). Studies have shown that genetic variants in the TSHR gene can increase susceptibility to autoimmune thyroid diseases (AITD). The TSHR gene is located on chromosome 14q31 and encodes a membrane-bound receptor that interacts with TSH to regulate thyroid hormone synthesis and secretion. AITD including Graves' disease (GD) and Hashimoto's thyroiditis (HT), are the most common thyroid disorders, affecting millions of people worldwide. In AITD, autoantibodies can bind to and activate the TSHR, leading to increased thyroid hormone production and secretion in GD, or thyroid destruction and hypothyroidism in HT. In addition to its role in thyroid hormone synthesis and secretion, some studies also revealed that the TSHR has also been implicated in a variety of other physiological processes, including bone metabolism, reproduction, and immune regulation. Genetic variation in the TSHR region may affect the expression, post-translational processing, and/or protein structure, which in turn may cause or worsen the autoimmune response. The TSHR gene and its products are widely used in diagnostic testing for AITD. Understanding the molecular mechanisms underlying the interaction between the TSHR and autoantibodies is critical for developing new diagnostic and therapeutic strategies for AITD

Primary Ovarian Insufficiency: Current Understanding and Diagnostic Approaches

Primary ovarian insufficiency (POI) is a medical condition where ovarian function stops prematurely, typically before the age of 40. This condition leads to infertility and produces symptoms similar to those experienced during menopause. Although the origins of POIs are diverse, genetic elements substantially influence their emergence. This assessment delves into the genetic facets of POI, covering genetic triggers, detection, and genetic consultation. We scrutinize the genes linked to POI and their function in ovarian activity, as well as the genetic deviations and mutations that foster POI onset. We also examine the challenges and limitations of genetic testing and counseling for POI and suggest ways to address these challenges. This review offers a thorough examination of the existing understanding of the genetic factors linked to Primary Ovarian Insufficiency (POI) emphasizing the critical need for further investigation in this field

The Role of Hla Genes in Immune Response, Disease Susceptibility, and Social Behaviours: A Comprehensive Review

Major Histocompatibility Complexes (MHC), which assist to code for proteins that distinguish between self and non-self, are significantly influenced by the Human Leukocyte Antigen (HLA) genes. Particularly important in the suppression of immune response are the HLA genes. The bulk of the genes in the MHC region shows considerable variation. The two most important functions of HLA molecules are selection of T cell accumulation and the formation and control of immunological responses. The causes of HLA-G gene-associated illnesses and the underlying mechanisms are still up for dispute. The HLA-G gene has an impact on social behaviour as well. Numerous polymorphisms have been connected to heightened susceptibility to the beginning of autoimmune illnesses as well as heightened disease severity. The lifetime of some HLA genes is shorter.Genetic background, environmental circumstances, and certain polymorphisms have been linked to increased illness severity. certain HLA genes have shorter life spans than others, and vice versa. The major functional elements of HLA-G in both normal and autoimmune disorders are summarized in this study

Resolution of Inflammation in Periodontitis: A Comprehensive Review

Inflammation, a natural defence mechanism against injury or infection, can become problematic when it fails to resolve, as observed in conditions like periodontitisThis review explores how inflammation is resolved in periodontitis and seeks potential treatments for this chronic condition, which damages the periodontium, including the gingival tissue, periodontal ligament, and alveolar bone. The pathogenesis of this disease is initiated by the inflammatory response triggered by resident leukocytes and endothelial cells upon exposure to bacterial biofilms, resulting in vasodilation and immune cell recruitment. The review stresses the importance of researching targeted approaches for periodontitis treatment, such as inducing neutrophil apoptosis, shifting from M1 to M2 macrophages, and exploring M2-based tissue engineering. Additionally, investigating lymphangiogenesis and Treg cell recruitment at the inflammation site offers promising avenues. In conclusion, further studies are needed to refine lymphangiogenesis and assess the potential of pro-resolving lipid mediators and anti-inflammatory cytokines in managing periodontitis. Ongoing research aims to uncover the underlying biomolecular mechanisms governing immune cells and resolving mediators, with the ultimate goal of restoring tissue equilibrium and promoting healing

Genetic Aspects of Implantation Failure

Implantation failure refers to the inability of a fertilized egg, or embryo, to successfully implant itself in the endometrial lining of the uterus, leading to pregnancy loss. The repeated failure of good quality embryo implantation is referred to as recurrent implantation failure (RIF). This can occur for a variety of reasons, including chromosomal abnormalities in the embryo, problems with the endometrium, or issues with the immune system. Factors such as advanced maternal age, obesity, smoking, and certain medical conditions can also increase the risk of implantation failure. While treatment such as in vitro fertilization (IVF) can help to improve the chances of successful implantation, there is currently no definite way to prevent or treat implantation failure.  Patients and healthcare professionals have substantial diagnostic and treatment hurdles as a result of many etiological factors and lack of knowledge about RIF. A number of studies have indicated a correlation between irregular hormone levels, disruptions in angiogenic and immunomodulatory factors, specific genetic polymorphisms, and the prevalence of RIF. Nonetheless, the precise and intricate underlying pathophysiology of RIF remains elusive.  However, many studies are ongoing in this field to understand the underlying causes and to find new ways to help couples achieve pregnancy. This review article extensively explores diverse molecular and genetic facets aimed at enhancing the diagnosis and management of implantation failure

Apolipoprotein E Polymorphism And It’s Lifestyle Impact

The Apolipoprotein E Polymorphism, with its three main allelic variants (APOE2, APOE3, and APOE4), has gained prominence in genetic research due to its critical implications for human health. This review article offers a concise introduction to the APOE protein polymorphism and its influence on individual’s way of life. The APOE gene encodes apolipoprotein E, a critical component of lipid metabolism that is essential for both cholesterol transport and neuron repair in the central nervous system. APOE ℇ4 raises Alzheimer's risk, ℇ2 protects, and ℇ3 is neutral. Lifestyle choices, such as diet, exercise, and cognitive engagement, predict susceptibility to chronic illnesses like Alzheimer's and cardiovascular disease (CVD). For APOE ℇ4 carriers, a heart-healthy lifestyle can reduce elevated risk, while ℇ2 carriers, being less vulnerable, may need less intervention

Multifactorial Aspects Influencing Non-Alcoholic Fatty Liver Disease (Nafld)

Nonalcoholic fatty liver disease (NAFLD) is a growing public health concern, with a prevalence of up to 25% worldwide. While once considered a benign condition, NAFLD is now recognized as a major cause of chronic liver disease, liver failure, and hepatocellular carcinoma. The pathogenesis of NAFLD is multifactorial and involves a complex interplay between genetic, environmental, and metabolic factors. In this review, we provide an overview of the multifactorial aspects of NAFLD, including genetic predisposition, insulin resistance, dyslipidemia, gut microbiota, dietary factors, and physical inactivity. We also discuss the role of inflammation, oxidative stress, and hepatic steatosis in the progression of NAFLD to nonalcoholic steatohepatitis (NASH), cirrhosis, and hepatocellular carcinoma. Finally, we review the current and emerging therapies for NAFLD and NASH, including lifestyle modifications, pharmacological interventions, and surgical approaches. The multifactorial nature of NAFLD requires a comprehensive approach to diagnosis, treatment, and prevention, with a focus on addressing the underlying metabolic and environmental factors that contribute to its development and progression

Endocrine Autoimmunity in Association with Female Infertility

Infertility is the inability to conceive after a year of regular unprotected sexual intercourse, affecting 10-15% of couples. Advanced age, obesity, and certain medications can hinder fertility. Endocrine autoimmunity is increasingly recognized as a significant contributor to female infertility, often complicating various gynecological conditions. Autoimmune issues involving the hypothalamus, pituitary gland, thyroid, adrenal glands, and ovaries can impact fertility. A multidisciplinary approach is essential for diagnosing infertility, with a crucial focus on identifying potential endocrine disorders. Here we discuss how to identify endocrine autoimmune patients with ovulatory dysfunction. Women must be advised about limiting factors to be avoided, to protect their fertility. A comprehensive understanding of the underlying mechanisms, coupled with appropriate diagnostic and therapeutic approaches, is crucial for effectively managing this complex condition and helping women achieve their reproductive goals