Podcast
Questions and Answers
What type of genetic mutation is associated with Huntington's disease and Spinocerebellar ataxia?
What type of genetic mutation is associated with Huntington's disease and Spinocerebellar ataxia?
An expansion of a CAG repeat
What is the role of genetic variation in the development of neurological disorders?
What is the role of genetic variation in the development of neurological disorders?
It can contribute to increased risk
What is the primary function of DNA methylation in epigenetic mechanisms?
What is the primary function of DNA methylation in epigenetic mechanisms?
To repress gene expression
How do epigenetic mechanisms regulate brain function?
How do epigenetic mechanisms regulate brain function?
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What is an example of a non-coding RNA-mediated regulation of gene expression?
What is an example of a non-coding RNA-mediated regulation of gene expression?
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What is an example of an environmental influence on epigenetics?
What is an example of an environmental influence on epigenetics?
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Study Notes
Genetics of Neurological Disorders
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Single gene disorders:
- Huntington's disease: caused by an expansion of a CAG repeat in the Huntingtin gene
- Spinocerebellar ataxia: caused by an expansion of a CAG repeat in the Ataxin gene
- Familial amyotrophic lateral sclerosis (ALS): caused by mutations in the SOD1, TARDBP, and FUS genes
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Complex disorders:
- Alzheimer's disease: multiple genetic risk factors, including APOE, APP, and PS1
- Parkinson's disease: multiple genetic risk factors, including SNCA, LRRK2, and PARK2
- Schizophrenia: multiple genetic risk factors, including COMT, DRD2, and BDNF
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Genetic variation and risk:
- Genetic variation can contribute to increased risk of developing neurological disorders
- Genetic testing can identify individuals at high risk of developing certain disorders
- Genetic counseling can help individuals understand their risk and make informed decisions
Epigenetics of Brain Function
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Epigenetic mechanisms:
- DNA methylation: addition of a methyl group to DNA, typically repressing gene expression
- Histone modification: modification of histone proteins, affecting chromatin structure and gene expression
- Non-coding RNA-mediated regulation: regulation of gene expression by non-coding RNAs, such as microRNAs
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Epigenetic regulation of brain function:
- Neuroplasticity: epigenetic mechanisms regulate synaptic plasticity and neuronal adaptation
- Neurodevelopment: epigenetic mechanisms regulate neural stem cell maintenance and differentiation
- Neurological disorders: epigenetic mechanisms contribute to the development and progression of neurological disorders, such as Rett syndrome and Alzheimer's disease
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Environmental influences on epigenetics:
- Environmental toxins: exposure to toxins can affect epigenetic marks and brain function
- Nutrition and lifestyle: dietary factors and lifestyle choices can influence epigenetic marks and brain function
- Experience and learning: experiences and learning can shape epigenetic marks and brain function
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Description
Learn about the genetics and epigenetics of neurological disorders, including single gene disorders, complex disorders, and the role of epigenetic mechanisms in brain function and neurological disorders.
