scholarly journals Epigenetic Basis of Twin Discordance in Diseases: Future Benefits

2018 ◽  
Vol 24 (2) ◽  
pp. 108 ◽  
Author(s):  
Ayse Banu Demir ◽  
Namik Demir
Keyword(s):  
Neurological Diseases ◽  
Monozygotic Twins ◽  
Complex Diseases ◽  
New Developments ◽  
Phenotypic Differences ◽  
Twin Models ◽  
Genetic Mechanisms ◽  
Mz Twins ◽  
Perfect Models

<p>Monozygotic twins share the same genotype since they are derived from the same zygote. However, monozygotic (MZ) twin siblings frequently present many phenotypic differences, such as their susceptibilities to diseases. These isogenic individuals are not entirely identical. They exhibit phenotypic incompatibility for many features, from birth weight to complex diseases. Recently, several studies have been published showing that phenotypic differences, especially in MZ twins, are being induced from prenatal period to life-long epigenetic differences. Epigenetic studies on twins have a great potential to contribute to our understanding of complex diseases, such as cancer, autoimmune disorders, psychiatric disorders and neurological diseases. Since MZ twins are genetic clones (genetically identical), they are considered as perfect models for studying the role of environmental factors as determinants of complex diseases and phenotypes. In this review, a number of intrauterine effects and genetic mechanisms that may affect phenotypic, genotypic, and epigenetic differences between MZ twins were described and effects of epigenetic mechanisms on complex diseases were mentioned. Further work on epigenetic changes in diseases using incompatible MZ twin models, would lead to new developments in medical therapies.</p>

Monozygotic Twins Display Different Minor Histocompatibility Antigens.

Blood ◽  
2009 ◽  
Vol 114 (22) ◽  
pp. 4324-4324
Author(s):  
Miroslaw Markiewicz ◽  
Urszula Siekiera ◽  
Monika Dzierzak Mietla ◽  
Agnieszka Karolczyk ◽  
Tomasz Kruzel ◽  
...  
Keyword(s):  
Large Scale ◽  
Hematological Malignancies ◽  
Conflicts Of Interest ◽  
Monozygotic Twins ◽  
Genotypic Diversity ◽  
Histocompatibility Antigens ◽  
Phenotypic Differences ◽  
Minor Histocompatibility Antigens ◽  
Genes Encoding

Abstract Abstract 4324 Introduction Albeit it is generally presumed that monozygotic twins are genetically identical and that phenotypic differences between twins are mainly due to environmental factors, large-scale variation in copy number of DNA segments recently evidenced by Bruder et al. (AJHG, 2008) showed presence of genotypic diversity in monozygotic twins. The rationale of this study was to test whether monozygotic twins display disparities of minor Histocompatibility antigens (mHags) which may play role in syngenic HCT. We and others have previously shown that mHags constitute an important immunogenetic factor influencing immune responses following transplantation from HLA-matched allogeneic donors. Patients and Methods mHags HA-1, HA-2, HA-3, HA-8, HB-1, ACC-1, ACC-2, HwA-9, HwA-10, UGT2B17, HY genotypes were defined with use of Dynal AllSet kits by PCR-SSP method in secured DNA samples from 3 monozygotic twins pairs aged 34, 24 and 28, who underwent syngenic allo-HCTs due to different hematological malignancies (NHL, CML, AML) in the Department of Hematology and BMT in Katowice, Poland in years 2000-2004. Results In 2 out of 3 syngenic pairs we have found differences in genes encoding mHags: different allele of EB-1 was present in one pair (NHL) (recipient HH, donor HY), and two different alleles of HwA-9 (RR, RG) and HwA-10 (**, R*) were present in second pair (CML). No differences in mHags were observed in the third pair (AML). Conclusions Our results question the long-standing belief that monozygotic twins are genetically identical and open up a possibility to further study the role of disparate mHags in disease and transplantation. Disclosures: No relevant conflicts of interest to declare.

Migraine and Antiphospholipid Antibodies: No Association Found in Migraine-Discordant Monozygotic Twins

Cephalalgia ◽  
2008 ◽  
Vol 28 (10) ◽  
pp. 1048-1052 ◽  
Author(s):  
FMK Williams ◽  
LF Cherkas ◽  
ML Bertolaccini ◽  
V Murru ◽  
GL Surdulescu ◽  
...  
Keyword(s):  
General Population ◽  
Antiphospholipid Antibodies ◽  
Migraine Headache ◽  
Pregnancy Loss ◽  
Natural Experiment ◽  
Genetic Factors ◽  
Monozygotic Twins ◽  
Anticardiolipin Antibody ◽  
Mz Twins

Migraine headache (with and without aura) is common in the general population and is known to be influenced by genetic factors with heritability estimates between 34-57±. Antiphospholipid syndrome (APS) is a hypercoagulable state characterized by clinical features including venous and arterial thromboses, pregnancy loss and migraine, and by association with antiphospholipid antibodies (aPL). Numerous small studies have investigated whether aPL are associated with migraine in the general population—-with contradictory results. In this study, the question was addressed by studying the prevalence of aPL in members of monozygotic (MZ) twin pairs differing in their migraine status. Such twins provide a unique natural experiment, matched as they are for age, sex and genetic factors, and allow the role of environmental factors, such as aPL, to be determined. Despite 95± power to detect a difference of 0.59 IgG units per litre in anticardiolipin antibody IgG titres, no difference in prevalence of aPL could be detected in migraine-discordant MZ twins.

Using an Active-Learning Approach to Teach Epigenetics

2010 ◽  
Vol 72 (4) ◽  
pp. 221-222 ◽  
Author(s):  
Migdalisel Colóón-Berlingeri
Keyword(s):  
Active Learning ◽  
Molecular Mechanisms ◽  
Monozygotic Twins ◽  
Learning Approach ◽  
Epigenetic Mechanisms ◽  
Cooperative Groups ◽  
Epigenetic Changes ◽  
Phenotypic Differences ◽  
Environmental Interactions

Epigenetics involves heritable changes in gene expression that do not involve alterations in the DNA sequence. I developed an active-learning approach to convey this topic to students in a college genetics course. I posted a brief summary of the topic before class to stimulate exchange in cooperative groups. During class, we discussed the genotypic and phenotypic differences between monozygotic twins and the role of epigenetic mechanisms in these differences. I also presented the molecular mechanisms that lead to these epigenetic changes as well as techniques used to study them. Students were particularly interested in pondering the relationships between environmental interactions, epigenetic changes, and phenotypic consequences, including human behavior.

Neurological consultations and diagnoses in a large, dedicated COVID-19 university hospital

2020 ◽  
Vol 78 (8) ◽  
pp. 494-500 ◽  
Author(s):  
Adalberto STUDART-NETO ◽  
Bruno Fukelmann GUEDES ◽  
Raphael de Luca e TUMA ◽  
Antonio Edvan CAMELO FILHO ◽  
Gabriel Taricani KUBOTA ◽  
...  
Keyword(s):  
Neurological Diseases ◽  
Neuromuscular Disorders ◽  
Neurological Symptoms ◽  
University Hospital ◽  
Special Treatment ◽  
Nasal Swabs ◽  
Neurological Exam ◽  
Neurological Conditions ◽  
De Medicina

ABSTRACT Background: More than one-third of COVID-19 patients present neurological symptoms ranging from anosmia to stroke and encephalopathy. Furthermore, pre-existing neurological conditions may require special treatment and may be associated with worse outcomes. Notwithstanding, the role of neurologists in COVID-19 is probably underrecognized. Objective: The aim of this study was to report the reasons for requesting neurological consultations by internists and intensivists in a COVID-19-dedicated hospital. Methods: This retrospective study was carried out at Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, Brazil, a 900-bed COVID-19 dedicated center (including 300 intensive care unit beds). COVID-19 diagnosis was confirmed by SARS-CoV-2-RT-PCR in nasal swabs. All inpatient neurology consultations between March 23rd and May 23rd, 2020 were analyzed. Neurologists performed the neurological exam, assessed all available data to diagnose the neurological condition, and requested additional tests deemed necessary. Difficult diagnoses were established in consensus meetings. After diagnosis, neurologists were involved in the treatment. Results: Neurological consultations were requested for 89 out of 1,208 (7.4%) inpatient COVID admissions during that period. Main neurological diagnoses included: encephalopathy (44.4%), stroke (16.7%), previous neurological diseases (9.0%), seizures (9.0%), neuromuscular disorders (5.6%), other acute brain lesions (3.4%), and other mild nonspecific symptoms (11.2%). Conclusions: Most neurological consultations in a COVID-19-dedicated hospital were requested for severe conditions that could have an impact on the outcome. First-line doctors should be able to recognize neurological symptoms; neurologists are important members of the medical team in COVID-19 hospital care.

Role of Nicotinic and Muscarinic Receptors on Synaptic Plasticity and Neurological Diseases

2016 ◽  
Vol 22 (14) ◽  
pp. 2004-2014 ◽  
Author(s):  
Marco Fuenzalida ◽  
Miguel Ángel Pérez ◽  
Hugo R. Arias
Keyword(s):  
Synaptic Plasticity ◽  
Muscarinic Receptors ◽  
Neurological Diseases

Microbiota-Immune System Interactions in Human Neurological Disorders

2020 ◽  
Vol 19 (7) ◽  
pp. 509-526
Author(s):  
Qin Huang ◽  
Fang Yu ◽  
Di Liao ◽  
Jian Xia
Keyword(s):  
Immune System ◽  
Gut Microbiota ◽  
Neurological Disorders ◽  
Brain Function ◽  
Neurological Diseases ◽  
Host Immune System ◽  
Gut Dysbiosis ◽  
Characteristic Features ◽  
Novel Therapeutic Strategies

: Recent studies implicate microbiota-brain communication as an essential factor for physiology and pathophysiology in brain function and neurodevelopment. One of the pivotal mechanisms about gut to brain communication is through the regulation and interaction of gut microbiota on the host immune system. In this review, we will discuss the role of microbiota-immune systeminteractions in human neurological disorders. The characteristic features in the development of neurological diseases include gut dysbiosis, the disturbed intestinal/Blood-Brain Barrier (BBB) permeability, the activated inflammatory response, and the changed microbial metabolites. Neurological disorders contribute to gut dysbiosis and some relevant metabolites in a top-down way. In turn, the activated immune system induced by the change of gut microbiota may deteriorate the development of neurological diseases through the disturbed gut/BBB barrier in a down-top way. Understanding the characterization and identification of microbiome-immune- brain signaling pathways will help us to yield novel therapeutic strategies by targeting the gut microbiome in neurological disease.

The Role of Negative Personality Traits in Psychological Adaptation

2019 ◽  
pp. 115-125
Author(s):  
Юлия Черткова ◽  
Yuliya Chertkova ◽  
Марина Егорова ◽  
Marina Yegorova
Keyword(s):  
Life Satisfaction ◽  
Personality Traits ◽  
Twin Study ◽  
Monozygotic Twins ◽  
Psychological Adaptation ◽  
Semantic Differential ◽  
Personal Traits ◽  
Only Children ◽  
Age Related

The paper reflects one of the aspects of the research carried out within the framework of the project “Nature of variability of negative personality traits: a twin study”. The research reviews the adaptive component of negative personal traits. The sample of the study consisted of 136 members of monozygotic twins and 401 only children in their families aged 18-78. Life satisfaction was a generalized metric of psychological adaptation. It is shown that a number of negative personality traits (in particular, narcissism, authoritarianism) positively correlate with life satisfaction. The biased value of various personality traits, which can also indirectly serve as an indicator of adaptability of these psychological properties, was assessed using a semantic differential. The age-related changes in the perfect image of the self, which are associated primarily with some more attractive negative personal traits, as well as the multidirectional desired changes in personality traits in themselves and the twin (more power and conflict in themselves and less of the same in the brother/sister) also indicate that a number of negative personal traits play a positive role in psychological adaptation. It is assumed that these traits can have a compensatory function during stress, and the destructiveness of these traits can have a greater impact on people around than on themselves.

scholarly journals Transglutaminases and Obesity in Humans: Association of F13A1 to Adipocyte Hypertrophy and Adipose Tissue Immune Response

2020 ◽  
Vol 21 (21) ◽  
pp. 8289
Author(s):  
Mari T. Kaartinen ◽  
Mansi Arora ◽  
Sini Heinonen ◽  
Aila Rissanen ◽  
Jaakko Kaprio ◽  
...  
Keyword(s):  
Immune Response ◽  
Adipose Tissue ◽  
Family Members ◽  
Enrichment Analysis ◽  
Human Adipose Tissue ◽  
Adipocyte Size ◽  
Gene Enrichment ◽  
Adipocyte Hypertrophy ◽  
Mz Twins

Transglutaminases TG2 and FXIII-A have recently been linked to adipose tissue biology and obesity, however, human studies for TG family members in adipocytes have not been conducted. In this study, we investigated the association of TGM family members to acquired weight gain in a rare set of monozygotic (MZ) twins discordant for body weight, i.e., heavy–lean twin pairs. We report that F13A1 is the only TGM family member showing significantly altered, higher expression in adipose tissue of the heavier twin. Our previous work linked adipocyte F13A1 to increased weight, body fat mass, adipocyte size, and pro-inflammatory pathways. Here, we explored further the link of F13A1 to adipocyte size in the MZ twins via a previously conducted TWA study that was further mined for genes that specifically associate to hypertrophic adipocytes. We report that differential expression of F13A1 (ΔHeavy–Lean) associated with 47 genes which were linked via gene enrichment analysis to immune response, leucocyte and neutrophil activation, as well as cytokine response and signaling. Our work brings further support to the role of F13A1 in the human adipose tissue pathology, suggesting a role in the cascade that links hypertrophic adipocytes with inflammation.

scholarly journals Role of Long Non-Coding RNA Polymorphisms in Cancer Chemotherapeutic Response

2021 ◽  
Vol 11 (6) ◽  
pp. 513
Author(s):  
Zheng Zhang ◽  
Meng Gu ◽  
Zhongze Gu ◽  
Yan-Ru Lou
Keyword(s):  
Molecular Mechanisms ◽  
Neurological Diseases ◽  
Cellular Processes ◽  
Dna And Rna ◽  
Chemotherapeutic Response ◽  
Non Coding Rna ◽  
Response To Chemotherapy ◽  
Personalized Oncology ◽  
Long Non Coding Rna

Genetic polymorphisms are defined as the presence of two or more different alleles in the same locus, with a frequency higher than 1% in the population. Since the discovery of long non-coding RNAs (lncRNAs), which refer to a non-coding RNA with a length of more than 200 nucleotides, their biological roles have been increasingly revealed in recent years. They regulate many cellular processes, from pluripotency to cancer. Interestingly, abnormal expression or dysfunction of lncRNAs is closely related to the occurrence of human diseases, including cancer and degenerative neurological diseases. Particularly, their polymorphisms have been found to be associated with altered drug response and/or drug toxicity in cancer treatment. However, molecular mechanisms are not yet fully elucidated, which are expected to be discovered by detailed studies of RNA–protein, RNA–DNA, and RNA–lipid interactions. In conclusion, lncRNAs polymorphisms may become biomarkers for predicting the response to chemotherapy in cancer patients. Here we review and discuss how gene polymorphisms of lncRNAs affect cancer chemotherapeutic response. This knowledge may pave the way to personalized oncology treatments.

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