What are the symptoms of genetic disorders?
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Symptoms of Genetic Disorders
Neuropsychiatric Symptoms in Genetic Disorders
Schizophrenia and Bipolar Disorder
Schizophrenia and bipolar disorder share several symptoms due to overlapping genetic factors. Both disorders involve synaptic and neuronal pathways, with specific loci distinguishing between them. Schizophrenia is often associated with psychotic features and an earlier age of onset in bipolar disorder patients. Genetic studies have identified shared and unique gene associations for positive and negative symptoms in schizophrenia, primarily involving neurotransmitter systems and neuronal development.
Depression in Breast Cancer Patients
Depressive symptoms are prevalent among breast cancer patients, influenced by genetic polymorphisms in brain-derived neurotrophic factor (BDNF), interferon γ receptor 1 (IFNGR1), interleukin-6 (IL-6), tumor necrosis factor α (TNFA), and IL-1B. These genetic variations affect susceptibility to depression, highlighting the role of inflammatory and neuronal pathways. Additionally, psychoneurological symptoms such as anxiety, cognitive impairment, fatigue, sleep disturbances, and pain are also influenced by genetic polymorphisms, particularly those involved in immune and neuronal systems.
Autism Spectrum Disorder in Mucopolysaccharidosis Type III
Mucopolysaccharidosis type III (MPS III) is a metabolic disorder that often presents with symptoms of autism spectrum disorder (ASD), including difficulties in speech, language, and communication. However, repetitive and restricted behaviors are less commonly reported. The presence of ASD-like symptoms can lead to misdiagnosis and delayed treatment.
ADHD Symptom Dimensions
Attention-deficit/hyperactivity disorder (ADHD) is characterized by inattention (INATT) and hyperactivity (HYP), both of which are highly heritable. INATT is influenced more by dominant genetic effects, while HYP is influenced by additive genetic effects. Environmental factors play a smaller role in these symptom dimensions.
Genetic Risk and Symptom Correlation
Huntington’s Disease
Huntington’s disease (HD) presents with cognitive decline and psychiatric symptoms, influenced by genetic factors. Polygenic risk scores for major depression and schizophrenia are associated with corresponding psychiatric symptoms in HD, suggesting a common genetic liability. However, cognitive impairment and apathy in HD are linked to reduced polygenic risk scores for intelligence, indicating distinct genetic influences.
Functional Somatic Disorders
Functional somatic disorders (FSD) such as fibromyalgia, irritable bowel syndrome (IBS), and chronic fatigue syndrome (CFS) have unique genetic risk profiles. Patients with fibromyalgia exhibit genetic risks for pain syndromes, internalizing disorders, autoimmune conditions, and sleep disorders. IBS and CFS also show broad genetic risk profiles, though less pronounced.
Conclusion
Genetic disorders manifest a wide range of symptoms influenced by specific genetic variations. Understanding these genetic underpinnings can improve diagnosis and treatment, paving the way for personalized medicine. Genetic research continues to uncover the complex relationships between genetic factors and symptomatology, offering hope for more effective interventions in the future.
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Most relevant research papers on this topic
Genomic Dissection of Bipolar Disorder and Schizophrenia, Including 28 Subphenotypes
Genetic Variation Associated With Depressive Symptoms in Breast Cancer Patients
Genetic Basis of Positive and Negative Symptom Domains in Schizophrenia
A framework for the investigation of rare genetic disorders in neuropsychiatry
Symptoms of Autism Spectrum Disorder (ASD) in Individuals with Mucopolysaccharide Disease Type III (Sanfilippo Syndrome): A Systematic Review
Systematic review of genetic polymorphisms associated with psychoneurological symptoms in breast cancer survivors
Analysis of shared heritability in common disorders of the brain
Genetic and environmental influences on ADHD symptom dimensions of inattention and hyperactivity: a meta-analysis.
A distinctive profile of family genetic risk scores in a Swedish national sample of cases of fibromyalgia, irritable bowel syndrome, and chronic fatigue syndrome compared to rheumatoid arthritis and major depression
Genetic Risk Underlying Psychiatric and Cognitive Symptoms in Huntington’s Disease
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