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Questions and Answers
What is the primary function of sensory neurons?
What is the primary function of sensory neurons?
Which type of neuron is responsible for linking sensory and motor neurons?
Which type of neuron is responsible for linking sensory and motor neurons?
What characterizes pyramidal cells?
What characterizes pyramidal cells?
Which type of neuron is known for having two types of dendrites, apical and basal?
Which type of neuron is known for having two types of dendrites, apical and basal?
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What is one important feature of Purkinje cells?
What is one important feature of Purkinje cells?
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Which type of neuron connects sensory information from the retina to the visual centers of the brain?
Which type of neuron connects sensory information from the retina to the visual centers of the brain?
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What is the relationship between the number of interneurons and brain size?
What is the relationship between the number of interneurons and brain size?
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What is a key characteristic of motor neurons?
What is a key characteristic of motor neurons?
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What is the primary function of microglia in the brain?
What is the primary function of microglia in the brain?
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Which type of glial cells myelinate axons in the peripheral nervous system?
Which type of glial cells myelinate axons in the peripheral nervous system?
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How does myelin affect neuronal communication?
How does myelin affect neuronal communication?
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What is a characteristic of Multiple Sclerosis (MS)?
What is a characteristic of Multiple Sclerosis (MS)?
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What negative effect can microglia have in response to inflammation?
What negative effect can microglia have in response to inflammation?
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What happens to neurons when oligodendroglia and Schwann cells are damaged?
What happens to neurons when oligodendroglia and Schwann cells are damaged?
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In what scenario may recovery occur in the event of axon severance?
In what scenario may recovery occur in the event of axon severance?
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What is one potential function of microglia regarding nearby brain regions?
What is one potential function of microglia regarding nearby brain regions?
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What condition did the Beery twins initially develop that was later diagnosed as dopa-responsive dystonia?
What condition did the Beery twins initially develop that was later diagnosed as dopa-responsive dystonia?
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Which treatment led to significant improvements in the Beery twins' condition?
Which treatment led to significant improvements in the Beery twins' condition?
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What genetic finding was discovered during the sequencing of the Beery twins’ genomes?
What genetic finding was discovered during the sequencing of the Beery twins’ genomes?
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What is the significance of Alexis competing in junior high school track after treatment?
What is the significance of Alexis competing in junior high school track after treatment?
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What was the primary conclusion made by Santiago Ramón y Cajal about the nervous system?
What was the primary conclusion made by Santiago Ramón y Cajal about the nervous system?
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What technique did Camillo Golgi develop to visualize nervous tissue?
What technique did Camillo Golgi develop to visualize nervous tissue?
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What aspect of precision medicine is highlighted by the Beery twins' case?
What aspect of precision medicine is highlighted by the Beery twins' case?
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What was the unique outcome of genome sequencing in the Beery twins’ treatment?
What was the unique outcome of genome sequencing in the Beery twins’ treatment?
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What is the primary role of the phospholipid bilayer in cells?
What is the primary role of the phospholipid bilayer in cells?
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Which part of the phospholipid molecule is hydrophilic?
Which part of the phospholipid molecule is hydrophilic?
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How many chromosomes do human somatic cells typically contain?
How many chromosomes do human somatic cells typically contain?
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What is the function of RNA during the transcription process?
What is the function of RNA during the transcription process?
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Which nucleotide base replaces thymine in RNA?
Which nucleotide base replaces thymine in RNA?
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What is the average number of base pairs in a human gene?
What is the average number of base pairs in a human gene?
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What occurs during the process of transcription?
What occurs during the process of transcription?
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What is the main purpose of the nucleus in a cell?
What is the main purpose of the nucleus in a cell?
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What are the chromosomes numbered 1 to 22 called?
What are the chromosomes numbered 1 to 22 called?
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What is the role of the SRY gene found on the Y chromosome?
What is the role of the SRY gene found on the Y chromosome?
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Which of the following describes homozygous alleles?
Which of the following describes homozygous alleles?
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What does complete dominance mean in terms of allelic expression?
What does complete dominance mean in terms of allelic expression?
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What is a single nucleotide polymorphism (SNP)?
What is a single nucleotide polymorphism (SNP)?
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Which type of dominance allows both alleles' traits to be expressed completely?
Which type of dominance allows both alleles' traits to be expressed completely?
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What type of alleles can be passed onto future generations even if not expressed in the phenotype?
What type of alleles can be passed onto future generations even if not expressed in the phenotype?
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How can genetic mutations affect proteins?
How can genetic mutations affect proteins?
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Study Notes
Fraternal Twins and Genome Sequencing
- Fraternal twins Alexis and Noah Beery were diagnosed with cerebral palsy but their condition worsened over time.
- Their mother, Retta Beery, suspected dopa-responsive dystonia after watching a news report.
- Daily l-dopa treatment, converted into dopamine, significantly improved their condition.
- Alexis developed breathing difficulties leading to further genetic analysis.
- Genome sequencing revealed an abnormality in a gene affecting dopamine and serotonin production.
- Adding 5-hydroxytryptophan, a serotonin precursor, to the treatment further improved their motor abilities.
- This is the first case where genome sequencing led to successful treatment, promoting precision medicine.
Neuron Theory
- The neuron theory, proposed by Santiago Ramón y Cajal, states that neurons are the functional units of the nervous system.
- More neurons lead to more complex behavior.
- This theory emerged from a debate with Camillo Golgi, who believed the nervous system was an interconnected network of fibers.
- Both Golgi and Cajal received the Nobel Prize in 1906 for their work on nervous system cells.
Types of Neurons
- Sensory neurons transmit information from sensory receptors to the spinal cord and brain.
- Interneurons associate sensory and motor activity within the central nervous system (CNS).
- Motor neurons carry information from the brain and spinal cord to muscles.
Sensory Neurons
- Bipolar neurons are found in the retina of the eye, transmitting sensory information from light receptors to the brain.
- Somatosensory neurons bring sensory information from the body to the spinal cord over long distances.
Interneurons
- Interneurons, also called association cells, link sensory and motor neurons.
- Stellate cells, a type of interneuron, have many dendrites and a hard-to-see axon.
- Larger brains have more interneurons due to their increased behavioral complexity.
- Pyramidal cells have a long axon and a pyramid-shaped cell body with two sets of dendrites.
- Purkinje cells have highly branched dendrites and carry information from the cerebellum to the rest of the brain.
Motor Neurons
- Motor neurons have extensive dendritic networks to collect information from multiple sources.
Glial Cells
- Glial cells support neurons in various ways.
- Astrocytes are star-shaped cells that help with nutrition, waste removal, and the blood-brain barrier.
- Microglia are the immune cells of the brain, engulfing foreign tissue and dead brain cells.
- Oligodendroglia myelinate axons in the brain and spinal cord, while Schwann cells myelinate axons in the peripheral nervous system.
Myelin
- Myelin acts like insulation on electrical wires, preventing neurons from short-circuiting and facilitating faster information transmission.
- Neurons that send messages quickly over long distances are heavily myelinated.
- Both Schwann cells and oligodendroglia also help in neuron nutrition and functioning.
Glial Cells and Disease
- Damage to oligodendroglia and Schwann cells can severely impact nervous system function, similar to neuron damage.
- Multiple sclerosis (MS) is a degenerative nervous system disorder often related to damage to oligodendroglia, resulting in scar tissue and impaired information flow.
- Glial cells assist in nervous system repair after axon severance.
Cell Membrane Structure
- The cell membrane is composed of a phospholipid bilayer, a selective barrier to many substances.
- Phospholipids have hydrophilic (water-attracting) heads and hydrophobic (water-repelling) tails.
- The bilayer forms with the heads outwards towards water and the tails pointing inwards.
- Small nonpolar molecules can pass through, while polar water molecules and charged ions cannot.
Nucleus and Protein Synthesis
- The nucleus stores, copies, and sends blueprints for protein and RNA synthesis.
- Genes, segments of DNA, encode these blueprints.
- Chromosomes are double-helix structures containing an organism's DNA library.
- A human somatic cell has 46 chromosomes, while reproductive cells have 23.
- DNA consists of two strands with sequences of four nucleotide bases: adenine (A), thymine (T), guanine (G), and cytosine (C).
- Base pairing: A pairs with T, and G pairs with C.
Transcription Process
- The gene unwinds, exposing bases for protein synthesis.
- Free-floating nucleotides form a complementary RNA strand.
- The RNA strand detaches and leaves the nucleus, carrying the code for protein synthesis.
RNA Transcription
- RNA has a single strand of bases, with uracil (U) replacing thymine (T)
- The transcribed RNA strand is called messenger RNA (mRNA), carrying the protein code to the endoplasmic reticulum (ER).
Chromosome Structure
- One chromosome from each pair is inherited from the mother and the other from the father.
- Pairs are numbered 1 to 23 based on size.
- Chromosome pairs 1 to 22 are called autosomes, influencing physical appearance and behavior.
- The 23rd pair consists of sex chromosomes (X and Y), influencing sexual characteristics.
- The Y chromosome carries the SRY gene, triggering male phenotype development.
Gene Copies and Alleles
- Each cell has two copies of every gene (alleles) from both parents.
- Homozygous alleles are identical, and heterozygous alleles are different.
- The most common nucleotide sequence is the wild-type allele.
- Less frequent sequences are mutations, which can be beneficial, neutral, or harmful.
Allelic Expression
- Homozygous alleles encode the same protein.
- Heterozygous alleles can encode different proteins.
- There are three possible outcomes for heterozygous alleles: only maternal, only paternal, or simultaneous expression of both.
Dominance
- A dominant allele is expressed as a trait.
- A recessive allele is not expressed when paired with a dominant allele.
- Complete dominance: Only the dominant allele's trait is expressed.
- Incomplete dominance: The dominant allele's trait is partially expressed.
- Codominance: Both alleles' traits are expressed completely.
Genetic Mutations
- Errors occur in nucleotide sequences during gene reproduction, leading to mutations.
- A single nucleotide polymorphism (SNP) is a change in a single nucleotide base, potentially altering protein function.
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Description
This quiz explores the groundbreaking case of fraternal twins Alexis and Noah Beery, whose cerebral palsy was successfully treated through genome sequencing and tailored medication. It also touches on the neuron theory by Santiago Ramón y Cajal, emphasizing the relationship between neurons and behavior. Test your understanding of precision medicine and fundamental neuroscience concepts.