Download Example of Gene Mutation and Its Effect on a Body System

Unit 5 Protein Synthesis and Mutations and Body Systems Correlation
Protein
Function
Actin/Myosin
Protein filaments found within myofibrils, which
form portions of the sarcomere, and these
contract to produce movement.
Amino acid and ProteinDerived Hormones
(ex., insulin, growth
hormones, thyroxine)
These proteins bind to receptor sites on the
targeted cells’ plasma membrane, and they act
as chemical messengers and send signals to the
targeted cells in response to internal/external
stimuli. For example, insulin regulates blood
sugar levels by signaling liver, muscle and fat
cells to take up extra glucose from the blood
Antibodies
B lymphocytes are white blood cells that produce
antibodies, which react to antigens that invade
the body; thus antibodies assist with defending
the body against foreign invaders
Enzymes
(ex., amylase, lipase,
pepsin)
Biological catalysts that speed up the rate of
chemical reactions; many break down complex
substances into smaller, simpler substances
Hemoglobin
Iron-containing protein found in red blood cells; it
chemically binds to oxygen which is transported
to all cells in the body by the red blood cells
Structural
(ex., keratin, collagen,
elastin)
Proteins that form outer layers and covers
surfaces and are used for protecting internal
structures; some are found in bone, cartilage,
and blood vessels and are used to support
structures.
System
Example of Gene Mutation and Its Effect on a Body System
Mutations cause permanent changes in the DNA, and some gene mutations can cause a change in the
protein. For example, a single change in the gene which codes for the protein hemoglobin subsequently
changes the sequence of amino acids in that protein. The change occurs when the base A in the mRNA
codon GAA is replaced by U to form the mRNA codon GUA. Thus, a different amino acid is used in
translating the codon (glutamic acid is replaced by valine), and this creates a structural change in the
protein, which affects the shape of the red blood cells and their function. Can you name the type of gene
mutation that causes this change and the disease which results from this change?
Answer Key
Protein
Function
System
Actin/Myosin
Protein filaments found within myofibrils, which
form portions of the sarcomere, and these
contract to produce movement.
Muscular System
Amino acid and ProteinDerived Hormones
(ex., insulin, growth
hormones, thyroxine)
These proteins bind to receptor sites on the
targeted cells’ plasma membrane, and they act
as chemical messengers and send signals to
the targeted cells in response to
internal/external stimuli. For example, insulin
regulates blood sugar levels by signaling liver,
muscle and fat cells to take up extra glucose
from the blood
Endocrine System
Antibodies
B lymphocytes are white blood cells that
produce antibodies, which react to antigens that
invade the body; thus antibodies assist with
defending the body against foreign invaders
Immune System
Enzymes
(ex., amylase, lipase,
pepsin)
Biological catalysts that speed up the rate of
chemical reactions; many break down complex
substances into smaller, simpler substances
Digestive System
Hemoglobin
Iron-containing protein found in red blood cells;
it chemically binds to oxygen which is
transported to all cells in the body by the red
blood cells
Circulatory and
Respiratory Systems
Structural
(ex., keratin, collagen,
elastin)
Proteins that form outer layers and covers
surfaces and are used for protecting internal
structures; some are found in bone, cartilage,
and blood vessels and are used to support
structures.
Skeletal and
Integumentary
Systems
Example of Gene Mutation and Its Effect on a Body System
Mutations cause permanent changes in the DNA, and some gene mutations can cause a change in the
protein. For example, a single change in the gene which codes for the protein hemoglobin subsequently
changes the sequence of amino acids in that protein. The change occurs when the base A in the mRNA
codon GAA is replaced by U to form the mRNA codon GUA. Thus, a different amino acid is used in
translating the codon (glutamic acid is replaced by valine), and this creates a structural change in the
protein, which affects the shape of the red blood cells and their function. Can you name the type of gene
mutation that causes this change and the disease which results from this change? Point
mutation/Substitution; Sickle-cell disease
Class Set
Immune system — All the cells and organs in your body that protect you from
disease, consisting of the skin, specialized blood cells, organs like the lymph nodes,
thymus , spleen and tonsils, as well as secretions. The immune system is responsible for
protecting the body from microscopic invaders.
Integumentary system - is an organ system consisting of the skin, hair, nails, and
exocrine glands. The skin is only a few millimeters thick yet is by far the largest organ in
the body. The average person’s skin weighs 10 pounds and has a surface area of almost
20 square feet. Skin forms the body’s outer covering and forms a barrier to protect the
body from chemicals, disease, UV light, and physical damage. Hair and nails extend
from the skin to reinforce the skin and protect it from environmental damage. The
exocrine glands of the integumentary system produce sweat, oil, and wax to cool,
protect, and moisturize the skin’s surface.
Digestive system - is a complex series of organs and glands that processes food. In
order to use the food we eat, our body has to break the food down into smaller molecules
that it can process; it also has to excrete waste. Most of the digestive organs (like the
stomach and intestines) are tube-like and contain the food as it makes its way through
the body. The digestive system is essentially a long, twisting tube that runs from the
mouth to the anus, plus a few other organs (like the liver and pancreas) that produce or
store digestive chemicals.
Endocrine system - is the collection of glands that produce hormones that regulate
metabolism, growth and development, tissue function, sexual function, reproduction,
sleep, and mood, among other things. The endocrine system is made up of the pituitary
gland, thyroid gland, parathyroid glands, adrenal glands, pancreas, ovaries (in females)
and testicles (in males).
Muscular system - is responsible for the movement of the human body. Attached to
the bones of the skeletal system are about 700 named muscles that make up roughly half
of a person’s body weight. Each of these muscles is a discrete organ constructed of
skeletal muscle tissue, blood vessels, tendons, and nerves. Muscle tissue is also found
inside of the heart, digestive organs, and blood vessels. In these organs, muscles serve to
move substances throughout the body.
Circulatory System - is responsible for transporting materials throughout the entire
body. It transports nutrients, water, and oxygen to your billions of body cells and carries
away wastes such as carbon dioxide that body cells produce. It is an amazing highway
that travels through your entire body connecting all your body cells. The circulatory
System is divided into three major parts: The Heart, The Blood, The Blood Vessels.
Skeletal system - is all of the bones in the body and the tissues such as tendons,
ligaments and cartilage that connect them. The main job of the skeleton is to provide
support for our body. Without your skeleton your body would collapse into a heap. Your
skeleton is strong but light. Your skeleton also helps protect your internal organs and
fragile body tissues. The brain, eyes, heart, lungs and spinal cord are all protected by
your skeleton. Your cranium (skull) protects your brain and eyes, the ribs protect your
heart and lungs and your vertebrae (spine, backbones) protect your spinal cord. Bones
provide the structure for muscles to attach so that our bodies are able to move.
Human respiratory - system is a series of organs responsible for taking in oxygen
and expelling carbon dioxide. The primary organs of the respiratory system are lungs,
which carry out this exchange of gases as we breathe. Red blood cells collect the oxygen
from the lungs and carry it to the parts of the body where it is needed. During the
process, the red blood cells collect the carbon dioxide and transport it back to the lungs,
where it leaves the body when we exhale.