Professional Documents
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Case Introduction
Lesson 4 Page 1
– The largest human cell is egg cell or oocyte while the smallest is
the sperm cell or spermatozoa
– Gametes or sex cell in males is called sperm cell and ova for
females
Chromosome
– Inside the very tiny zygote are 23 pairs of chromosomes, which
contain chemical instructions for the development of brain and
body
– A short, rodlike, microscopic structure that contains tightly coiled
strands of the chemical DNA
Chemical Alphabet
> DNA or Deoxyribonucleic Acid
– Each chromosome contains a long coiled strand of DNA
– Double stranded or double helix
– Each rung of the DNA ladder is made up of four chemicals
– The order in which the four different chemicals combine to
form rungs creates a microscopic chemical alphabet
▫ DNA and RNA both share three common chemicals are cytosine,
guanine and adenine
Lesson 4 Page 2
Genes and Proteins
– On each chromosome are specific segments that contain particular
instructions
Gene
– A specific segment on the long strand of DNA that contains
instructions for making proteins
▫ Two genes most associated with eye color are OCA2 and
HERC2 localized in chromosome number 15
Proteins
– Chemical building blocks from which all the parts of the brain
and body are constructed
Polymorphic Gene
– Genes that has more than one version
Genome
– An organism's complete set of DNA, including all its genes.
– Each genome contains all the information needed to build
and maintain that organism
– Human Genome Project
→ A study that started on 1990 and ended on 2003. Its aim
was to understand the blueprint for building a person.
The study cost 2.7B in USD. It was claimed before that
humans are made up of 100,000 genes. But this study
found that only 20,000 to 25,000 are present on the 23
pairs of chromosomes that we have. They then
proceeded going beyond the findings of study.
Lesson 4 Page 3
Errors in Genetic Testing
Fragile X syndrome
– Also known as Martin Bell Syndrome
– The first scientist to describe this were James Poordon Martin
and Julia Bell
– Also called as FMRP, FMR1, Fragile or Mental Retardation Protein
or Fragile X Mental Retardation Gene
– Plays a part in synapses of brain
– When there is error or mutation, synapses do not develop properly
and problems with intellectual disability arise
– Mutation in FMR1 gene
– FMR1 is a common cause of intellectual disability or mental
retardation and leading genetic cause of ASD
– People with FMR1 usually have IQ of 55 which is considered as
Severe Intellectual Disability; whereas the average IQ is 100.
– The Physical Characteristics of people with FMR1 are:
- They become more apparent with age
- Long and narrow faces
- Large ears protruding
- Prominent jaw
- Wide forehead
- Fingers are unusually flexible
- Flat feet
- Unusually large testicles for males
– Manifests more severely among men
→ Due to the reason that sex chromosome is different among
males and females. Since the sex chromosome of males are
XY, they only have one X, hence if an error occurred in their X
chromosome, no chromosome can compensate for the
error. However, for females, as their chromosome is XX, if one
X chromosome is fragile, the other X chromosome could at
least compensate for the error of the former X chromosome.
- The first 22 pairs of chromosomes is called autosomes;
while the 23rd pair is called sex chromosomes which
determines the gender
– It is possible to inherit fragile x, carrier of syndrome
Down Syndrome
Lesson 4 Page 4
Down Syndrome
– First described by John Langdon Down
– Also known as Trisomy 21
– Previously known as mongolism
→ The reason why John called it mongolism is because they
somehow resemble the Mongolian race or Mongol people.
However, due to its negative connotation, it was renamed as
Down Syndrome
– Results from an extra 21st chromosome
– Cause abnormal physical traits such as:
- Fold on each eye
- Wide tongue
- Heart defects
- Varying degrees of intellectual disabilities
– Other physical features are:
- Upslanted palpebral fissures
- Flat nasal bridge
- Nuchal folds
- Single palmar flexion crease
→ There are three prominent creases in most people
- Clinodactyly of the fifth finger or curvature of a digit finger
towards the fourth finger
– For babies or children, they are like rugged doll and floppy when
lifted
Genetic Testing
– Involves taking a sample from someone's blood, hair, skin, or other
body parts and then examining the person's genes to look for signs
Lesson 4 Page 5
body parts and then examining the person's genes to look for signs
that they may be at risk for specific diseases or disorders
– Used in prenatal screening such as:
→ Chorionic Villus Sampling (CVS) which is performed during 1st
trimester (10-13 weeks of the baby). It has a very low risk of
miscarriage
→ Amniocentesis wherein amniotic fluid is removed from the uterus,
surrounding the baby, for testing. It is performed during 2nd
trimester(15 weeks of baby). It has a very low risk of miscarriage
Nervous System
– Central nervous system and Peripheral Nervous System
– Brain and spinal cord are composed of glial cells that make up
the nervous system which controls life sustaining function of body
and behavior
The Brain
– The part that makes sense of the information received
from the senses, makes decision, and sends commands
out to the muscles and rest of the body
– Core of nervous system
– Responsible for cognition and thoughts including
learning, memory, and language
– Mental processes
Lesson 4 Page 6
– Mental processes
– The human brain weighs around 3 pounds or 1350 grams
– Its consistency is gelatin-like
– Protected by thick layer of skull called Cerebrospinal
fluid
> Forebrain
– Largest part in comparison of the two
major parts
– Connected by wide bind of fibers
– Responsible for wide range of function
such as learning, memory, speaking,
language, emotional responses, sensation,
voluntary planning, and making decisions
– Has left and right hemisphere
– Left hemisphere dominant: logical and
analytical
– Right brain: creative, emotional, carefree,
and artistic
– We use both halves of the brain equally
though it is true that there are more parts
active during certain activities. However,
overall we use both hemispheres. There is
no evidences of sidedness. Moreover, both
hemispheres are active regardless of
personality, logical thinker or what-not
> Midbrain
– Early in its development, it is in the middle
of the brain but when it developed in adult
mammal, it is dwarfed and surrounded by
forebrain
– Is said to have reward and pleasure center
– Is highly associated with food, attractive
face, money, and etc.
– Has areas for visual and auditory reflexes
such as automatically turning head
towards a noise (has evolutionary or
adaptive quality)
Lesson 4 Page 7
○ Tectum
– Location of visual or auditory
reflexes
– Latin term for "roof"
– Roof of midbrain
– Contains structure that is highly
responsible for auditory and
visual reflexes called Colliculi
which is "little hills" or "little
swellings" in Latin
▫ Superior Colliculus
– Located above
– Visual motor function
– Sense of sight
▫ Inferior Colliculus
– Located below
– Specifically for auditory
function
○ Substantia Nigra
– Highly associated with reward or
the pleasure center
– Latin for "black substance"
– The substantia nigra gives rise to
a dopamine-containing pathway
that facilitates readiness for
movement
– Abundant in dopamine receptors
If there is a neuron death in the
substantia nigra, parkinson's
disease or symptom begins
Lesson 4 Page 8
○ Reticular formation
– Arouses the forebrain so that it is
ready to process information
from the senses
– No exact location because its
connection extends all
throughout the brainstem and
different parts of the brain
– "rete" in Latin which means net
that explains the widespread of
location
– Contains axons that ascend to
brain and descend to spinal cord
– Highly associated with arousal
hence, a damage to reticular
formation will most likely fall into a
coma
– Giuseppe Moruzzi and Horace
Magoun experimented a cat.
After giving the cat's brain an
electrical stimulation, it
awakened. When they damaged
its reticular formation, the cat fell
into a deep sleep
> Hindbrain
Lesson 4 Page 9
> Hindbrain
– The most primitive part of brain
– Oldest part of the brain
– Located at the back of the brain
– Sits at juncture point where spinal cord
and brain merge
– It was called Primitive because (1) it acts
as basic life support system for the body
where there is no creative thoughts or
complex emotion originate. It is where
breathing, blood pressure, and heart rate
functions. (2) It is also the oldest part and
the most basic function
– Damage to hindbrain will automatically
lead to death
○ Pons
– Latin word for "bridge"
– It functions as a bridge to
transmit messages between
the spinal cord and brain
– It also makes chemicals
involved in sleep
– Also associated with
attention, sleep and
alertness as well as
respiration
– Involved in autonomic and
sensory functions
– Respiratory, arousal
processes, fine motor control
equilibrium, muscle tone,
and circadian rhythm
○ Medulla
– Located at the top of the
spinal cord, includes a group
of cells that that control vital
Lesson 4 Page 10
of cells that that control vital
reflexes such as respiration,
heart rate, and blood
pressure
– Sustaining functions
– First bump (keyword: medyo
dulo raw sabi ni ma'am kasi
ung dulong-dulo spinal cord
na raw eon)
– Drug overdose or intake of
large amounts of drugs in
the system is fatal since the
function of cells of medulla
may be suppressed which
then could lead to death
○ Cerebellum
– It is called cerebellum
because it looks like a little
version of brain
– in Latin it is called "little brain"
– Involves in preparation,
selection, and coordination
of complex motor
movements such as playing
the piano
– Is also responsible for
voluntary movement
– Damage in cerebellum
eliminates the ability to
precisely control one's
movement and adapt to
them and produces a
variety of cognitive deficits
such as decision making and
language
– Its major function is sensory
movement control function
but is not limited to this
– Alcohol, a depressant drug
and GABA agonist, interferes
with the functions of
cerebellum. One who's
Lesson 4 Page 11
cerebellum. One who's
drunk would experience
decreased motor
coordination. There is also
deficit in language (slurred
speech) and decision
making (impulsive decision)
Brain-Imaging Techniques
Lesson 4 Page 13
– Measures the changes in activity of specific neurons that are
functioning during cognitive tasks such as thinking listening or
reading
– Scanner detects the amount of hemoglobin with oxygen
– When a brain area becomes more active, too relevant changes
occur, the blood vessels dilate to allow more blood flow to the
area. Second, the percentage of hemoglobin with oxygen
decreases
– It produces images representing the increase of oxygen flow in
the blood to active areas of brain
– Does our brain have specialized parts with specific functions or does it
have more generalized parts with each part carrying a variety of
function without specializing in any?
Lesson 4 Page 14
detecting bodies; body > object
▫ It is said the some parts of FBA overlaps with FFA and vice-versa
because they are so close to each other which is probably why some
studies before have that FFA is also highly responsible in body
▫ The higher the resolution of picture, the more the FFA and FBA are able
to exclusively detect faces and body.
▫ No matter how close FFA and FBA are, they each have distinct parts
Lesson 4 Page 15