Podcast
Questions and Answers
Which of the following is true about mutation-selection balance in humans?
Which of the following is true about mutation-selection balance in humans?
- There are 2-3 new deleterious coding mutations per person
- There are 2-3 new beneficial coding mutations per person
- There are 500-2000 old beneficial coding mutations per person
- There are 500-2000 old slightly deleterious coding mutations per person (correct)
What is epigenetics?
What is epigenetics?
- The study of genetic disorders
- The study of gene expression influenced by the environment (correct)
- The study of genetic mutations
- The study of genetic engineering
Why is finding genes difficult?
Why is finding genes difficult?
- Heterogeneity (correct)
- Few genes are involved
- Unaffected relatives have no genotypic risk
- Genes do not depend on environmental stressors
What is the mode of transmission for mental disorders?
What is the mode of transmission for mental disorders?
What do genes confer in relation to mental disorders?
What do genes confer in relation to mental disorders?
What is an endophenotype?
What is an endophenotype?
What is the function of the central nervous system (CNS)?
What is the function of the central nervous system (CNS)?
What is the function of the peripheral nervous system (PNS)?
What is the function of the peripheral nervous system (PNS)?
What is the blood brain barrier (BBB)?
What is the blood brain barrier (BBB)?
What causes a stroke?
What causes a stroke?
Which part of the brain is responsible for generating smooth, coordinated movement?
Which part of the brain is responsible for generating smooth, coordinated movement?
Which part of the brain is activated during tasks that require motor coordination?
Which part of the brain is activated during tasks that require motor coordination?
Which part of the brain is involved in addiction, schizophrenia, and Parkinson’s disease?
Which part of the brain is involved in addiction, schizophrenia, and Parkinson’s disease?
Which part of the brain controls a number of different drives, including sleep, hunger, thirst, and sex?
Which part of the brain controls a number of different drives, including sleep, hunger, thirst, and sex?
Which part of the brain is known as the 'gateway to the cortex' and where all information passes through?
Which part of the brain is known as the 'gateway to the cortex' and where all information passes through?
Which part of the brain is responsible for memory and emotions, and is important in psychopathology?
Which part of the brain is responsible for memory and emotions, and is important in psychopathology?
Which part of the brain is involved in fear and emotional memory?
Which part of the brain is involved in fear and emotional memory?
Which part of the brain is important for action selection and motor control, and is highly dopaminergic?
Which part of the brain is important for action selection and motor control, and is highly dopaminergic?
Which part of the brain was removed from the patient H.M. and resulted in the inability to form new declarative memories?
Which part of the brain was removed from the patient H.M. and resulted in the inability to form new declarative memories?
Which part of the brain plays a key role in the regulation of cardiac, respiratory, and skeletal muscle tone, as well as basic functions like breathing and sleeping?
Which part of the brain plays a key role in the regulation of cardiac, respiratory, and skeletal muscle tone, as well as basic functions like breathing and sleeping?
Alcohol affects the ______
Alcohol affects the ______
The chemical composition of CSF is very similar to ______
The chemical composition of CSF is very similar to ______
The ______ controls a number of different drives, including sleep, hunger, thirst, and sex
The ______ controls a number of different drives, including sleep, hunger, thirst, and sex
The ______ is responsible for memory and emotions, and is important in psychopathology
The ______ is responsible for memory and emotions, and is important in psychopathology
The ______ is the 'gateway to the cortex' and where all information passes through
The ______ is the 'gateway to the cortex' and where all information passes through
Match the following brain structures with their functions:
Match the following brain structures with their functions:
Match the following brain regions with their associated functions:
Match the following brain regions with their associated functions:
Match the following brain areas with their roles:
Match the following brain areas with their roles:
Match the following brain areas with their associated functions:
Match the following brain areas with their associated functions:
Match the following brain regions with their functions:
Match the following brain regions with their functions:
Flashcards
Mutation-Selection Balance
Mutation-Selection Balance
The balance between new mutations introducing deleterious genes and natural selection removing them.
Epigenetics
Epigenetics
Changes in gene expression (phenotype) without alterations to the DNA sequence (genotype).
Genetic Heterogeneity
Genetic Heterogeneity
Genetic diversity, different genes may cause similar disorders in different people or families.
Genotype
Genotype
The genetic information (alleles) at specific locations within the genome.
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Phenotype
Phenotype
The observable traits that result from the interaction of genes and environment.
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Endophenotype
Endophenotype
An observable and measurable trait that lies on the pathway between genes and a disorder, providing insight into genetic risk.
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Central Nervous System (CNS)
Central Nervous System (CNS)
The command center of the body, responsible for perception, thought, emotion, memory, and behavior, consisting of the brain and spinal cord.
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Peripheral Nervous System (PNS)
Peripheral Nervous System (PNS)
The system that relays sensory information to the CNS and carries commands from the CNS to the body.
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Stroke
Stroke
Brain damage caused by interruption of blood supply.
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Blood-Brain Barrier (BBB)
Blood-Brain Barrier (BBB)
A highly selective barrier that restricts the passage of substances from the bloodstream into the brain.
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Meninges
Meninges
Three layers of protective tissue that cover the brain and spinal cord.
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Cerebrospinal Fluid (CSF)
Cerebrospinal Fluid (CSF)
The fluid that circulates through the brain's ventricles and subarachnoid space, providing cushioning and waste removal.
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Brainstem
Brainstem
The structure connects the brain to the body, regulates basic functions like breathing, heart rate, and sleep.
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Cerebellum
Cerebellum
A structure important for coordinated movement, balance, and motor learning.
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Midbrain
Midbrain
A region containing the dopamine system involved in addiction, schizophrenia, and Parkinson's.
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Hypothalamus
Hypothalamus
Brain region that controls drives (hunger, thirst, sleep, sex) and hormone release.
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Thalamus
Thalamus
A central relay station for sensory information to the cortex.
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Limbic System
Limbic System
A system involved in memory and emotions, including the hippocampus, amygdala, and cingulate cortex.
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Hippocampus
Hippocampus
A structure crucial for memory and spatial navigation.
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Amygdala
Amygdala
Processes emotions, particularly fear and emotional memories.
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Basal Ganglia
Basal Ganglia
Brain region involved in action selection and motor control, highly influenced by dopamine.
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Genetics
- Mutation-selection balance: 2-3 new deleterious coding mutations per person, 500-2000 old slightly deleterious coding mutations per person
- Epigenetics: Environment can change structure and function of genes and whether they are expressed or not
- Challenges in finding genes:
- Heterogeneity (different genes may be important in different families, gene pools)
- Many genes involved, each with small effect
- Some genes may depend on environmental stressors to be expressed
- Unaffected relatives may have some degree of genotypic risk
- Take home points on GENETICS:
- Mental disorders are moderately to highly heritable
- Mode of transmission is complex, involving many genes of small effect
- Genes confer not mental disorders directly, but rather disturbances in brain structure and function that make one susceptible to their symptoms
- Multidimensional, comprehensive approach puts us in the best position to understand the causes of psychopathology and alleviate and prevent psychopathology
Neuroanatomy
- Genotype vs phenotype:
- Genotype: genetic information (alleles in specific locations)
- Phenotype: resulting traits that can be observed
- Genotype codes for phenotype
- Endophenotype: an intermediate phenotype, something that can be observed and measured that falls between the gene and disorder
- Central Nervous System (CNS):
- Command and control center that governs perception, thoughts, feelings, memories, decisions, and behavior
- Consists of brain and spinal cord
- Peripheral Nervous System (PNS):
- Relays sensory information about the world to the CNS
- Carries commands from the CNS to muscles and organs
- Consists of cranial nerves, spinal nerves, and autonomic nervous system
Brain Structure and Function
- Brain vasculature:
- Like all body organs, the brain has a blood supply
- Stroke: brain damage caused by a restriction of blood to the brain by a burst or weak blood vessel or by a blockage
- Blood-Brain Barrier (BBB):
- Restrictive barrier between the CNS and circulatory system
- Prevents many molecules from entering the brain through the bloodstream
- Meninges:
- Meningitis: inflammation of the meninges, usually caused by bacterial or viral infection
- Cerebrospinal fluid (CSF):
- Circulates very slowly through the brain's ventricular system (fluid-filled spaces around and within the brain)
- Produced by tissue within the ventricles and subarachnoid space (about 500ml/day)
Brain Regions
- Brainstem:
- All connections to the rest of the body pass through
- Key role in regulation of cardiac, respiratory, and skeletal muscle tone and very basic functions like breathing and sleeping
- Cerebellum:
- Helps generate smooth, coordinated movement
- Integrates visual, motor, vestibular (balance), and somatosensory info
- Midbrain:
- Dopamine system is involved in addiction, schizophrenia, and Parkinson’s disease
- Hypothalamus:
- Controls a number of different drives, including sleep, hunger, thirst, sex, sleep/wake cycle
- Controls hormone release by pituitary
- Thalamus:
- "Gateway to the cortex", all information passes through the thalamus
- Limbic System:
- Hippocampus (seahorse)
- Amygdala (almond)
- Cingulate cortex
- Anterior thalamus
- Mammillary bodies
- Function: memory and emotions, important in psychopathology
- Hippocampus:
- Memory
- Spatial memory and navigation
- Vulnerable – hypoxia and stress
- Amygdala:
- Emotion – fear ; emotional memory
- Basal Ganglia:
- Caudate nucleus and putamen
- Important for action selection and motor control
- Highly dopaminergic, related to schizophrenia, substance abuse
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