Investigating The Role of Treatable Genetic Diseases In Schizophrenia And Bipolar Disorder Populations And Its Clinical Diagnostic Impact

На сегодняшний день в базе данных Online Mendelian Inheritance in Man (OMIM) описано более 6613 заболеваний и фенотипов, 4241 имеют доказанную генетическую основу, не менее 45% вкючают офтальмологические проявления. В статье приведен ряд клинический примеров пациентов с офтальмологическими симптомами различных генетических заболеваний (алкаптонурия, болезнь Штаргардта, синдром микроцефалии с или без хориоретинопатии; астроцитарная гамартома) с целью демонстрации эффективного клинико-диагностического скрининга генетической патологии у пациентов. So far, the Online Mendelian Inheritance in Man (OMIM) database describes more than 6613 diseases and phenotypes, 4241 have a proven genetic basis, 45% of which are combined with ophthalmological manifestations. The article provides a number of clinical examples of patients with ophthalmological manifestations of various genetic diseases (alcaptonuria, Stadgart ‘s disease, microcephaly syndrome with or without choriretinopathy; Astrocytic gamartoma) to demonstrate effective clinical-diagnostic screening of genetic pathology in patients.

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The possible resilience role of cognitive reserve in bipolar disorder

10.26226/morressier.5785edc9d462b80296c999cc ◽

2016 ◽

Author(s):

Iria Grande

Keyword(s):

Bipolar Disorder ◽

Cognitive Reserve

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A Non-Interventional Pilot Study to Explore the Role of Gut Flora in Bipolar Disorder

Case Medical Research ◽

10.31525/ct1-nct04211428 ◽

2019 ◽

Author(s):

Keyword(s):

Bipolar Disorder ◽

Pilot Study ◽

Gut Flora

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Faculty Opinions recommendation of Cerebrospinal fluid metabolomics identifies a key role of isocitrate dehydrogenase in bipolar disorder: evidence in support of mitochondrial dysfunction hypothesis.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature ◽

10.3410/f.726084834.793526786 ◽

2016 ◽

Author(s):

Victor Reus

Keyword(s):

Bipolar Disorder ◽

Cerebrospinal Fluid ◽

Mitochondrial Dysfunction ◽

Isocitrate Dehydrogenase

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The Renin Angiotensin System and Bipolar Disorder: A Systematic Review

Protein and Peptide Letters ◽

10.2174/0929866527666200127115059 ◽

2020 ◽

Vol 27 (6) ◽

pp. 520-528 ◽

Cited By ~ 2

Author(s):

Izabela Guimarães Barbosa ◽

Giulia Campos Ferreira ◽

Diomildo Ferreira Andrade Júnior ◽

Cássio Rocha Januário ◽

André Rolim Belisário ◽

...

Keyword(s):

Systematic Review ◽

Bipolar Disorder ◽

Cardiovascular Diseases ◽

Renin Angiotensin System ◽

Plasma Renin ◽

Angiotensin Receptors ◽

Angiotensin System ◽

Renin Angiotensin ◽

Search Terms

Bipolar Disorder (BD) is a chronic a multifactorial psychiatric illness that affects mood, cognition, and functioning. BD is associated with several psychiatric conditions as well clinical comorbidities, particularly cardiovascular diseases. The neurobiology of BD is complex and multifactorial and several systems have been implicated. Considering that the Renin Angiotensin System (RAS) plays an important role in cardiovascular diseases and that recently evidence has suggested its role in psychiatric disorders, the aim of the present study is to summarize and to discuss recent findings related to the modulation of RAS components in BD. A systematic search of the literature using the electronic databases MEDLINE and LILACS was conducted through March 2019. The search terms were: “Bipolar Disorder”; “Renin Angiotensin System”; “Angiotensin 2”; “Angiotensin receptors”; “Angiotensin 1-7”; “ACE”; “ACE2”; “Mas Receptor”. We included original studies assessing RAS in BD patients. Two hundred twenty-two citations were initially retrieved. Eleven studies were included in our systematic review. In the majority of studies (6 of 8), the ACE insertion/deletion (I/D) polymorphism did not differ between BD patients and controls. BD patients presented higher plasma renin activity in comparison with controls. The studies evaluating the RAS molecules in BD are very scarce and heterogeneous. The literature suggests a potential role of RAS in BD. Further studies are necessary to investigate this relationship.

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Considering a Potential Role of Linalool as a Mood Stabilizer for Bipolar Disorder

Current Pharmaceutical Design ◽

10.2174/1381612826666200724160742 ◽

2020 ◽

Vol 26 (40) ◽

pp. 5128-5133

Author(s):

Kate Levenberg ◽

Wade Edris ◽

Martha Levine ◽

Daniel R. George

Keyword(s):

Bipolar Disorder ◽

Treatment Options ◽

Mood Stabilizer ◽

Well Being ◽

Epidemiologic Studies ◽

Treatment Regimens ◽

Bipolar Spectrum Disorders ◽

Short And Long Term

Epidemiologic studies suggest that the lifetime prevalence of bipolar spectrum disorders ranges from 2.8 to 6.5 percent of the population. To decrease morbidity and mortality associated with disease progression, pharmacologic intervention is indicated for the majority of these patients. While a number of effective treatment regimens exist, many conventional medications have significant side effect profiles that adversely impact patients’ short and long-term well-being. It is thus important to continue advancing and improving therapeutic options available to patients. This paper reviews the limitations of current treatments and examines the chemical compound Linalool, an alcohol found in many plant species, that may serve as an effective mood stabilizer. While relatively little is known about Linalool and bipolar disorder, the compound has been shown to have antiepileptic, anti-inflammatory, anxiolytic, anti-depressive, and neurotrophic effects, with mechanisms that are comparable to current bipolar disorder treatment options.

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Artificial RNA Editing with ADAR for Gene Therapy

Current Gene Therapy ◽

10.2174/1566523220666200516170137 ◽

2020 ◽

Vol 20 (1) ◽

pp. 44-54 ◽

Cited By ~ 1

Author(s):

Sonali Bhakta ◽

Toshifumi Tsukahara

Keyword(s):

Gene Therapy ◽

Genetic Code ◽

Molecular Mechanism ◽

Rna Editing ◽

Comparative Studies ◽

Genetic Diseases ◽

Adenosine Deaminases ◽

Family Protein ◽

Hydrolytic Deamination

Editing mutated genes is a potential way for the treatment of genetic diseases. G-to-A mutations are common in mammals and can be treated by adenosine-to-inosine (A-to-I) editing, a type of substitutional RNA editing. The molecular mechanism of A-to-I editing involves the hydrolytic deamination of adenosine to an inosine base; this reaction is mediated by RNA-specific deaminases, adenosine deaminases acting on RNA (ADARs), family protein. Here, we review recent findings regarding the application of ADARs to restoring the genetic code along with different approaches involved in the process of artificial RNA editing by ADAR. We have also addressed comparative studies of various isoforms of ADARs. Therefore, we will try to provide a detailed overview of the artificial RNA editing and the role of ADAR with a focus on the enzymatic site directed A-to-I editing.

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Cognitive behaviour therapy meets psychopharmacotherapy

The Cognitive Behaviour Therapist ◽

10.1017/s1754470x10000127 ◽

2010 ◽

Vol 3 (4) ◽

pp. 117-131

Author(s):

David Veale ◽

Anna Stout

Keyword(s):

Bipolar Disorder ◽

Side Effects ◽

Emotional Disorders ◽

Cognitive Behaviour Therapy ◽

Behaviour Therapy ◽

Cognitive Behaviour ◽

Underlying Disorder

AbstractThis article provides an overview of the role of psychopharmacotherapy in common emotional disorders for cognitive behaviour therapists. We consider some of the philosophical difference between CBT and medication, when medication might interfere with CBT, when it may enhance outcome and when it might be safely discontinued. We highlight how to differentiate side-effects and symptoms of discontinuation of antidepressants from that of the underlying disorder. The scope of this article is confined to common emotional disorders and does not discuss the interaction of CBT with medication in, e.g. schizophrenia, bipolar disorder or dementia.

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