Central Dogma and Genetic Medicine Click & Learn

Student Worksheet

OVERVIEW
This worksheet complements the Central Dogma and Genetic Medicine Click & Learn.

PROCEDURE
As you proceed through the Click & Learn, follow the instructions below and answer the questions in the spaces
provided.

1. Let’s review! The central dogma of molecular biology refers to the process of gene expression. Write the
definition of gene expression in your own words.
A functioning molecule is created from the information stored in a gene.

2. Click on the “Central Dogma” menu tab at the top of the screen.
The table below outlines the steps in eukaryotic gene expression. Click on each tab or scroll through the page
and briefly summarize each step below.

Gene Molecules Involved

Summary
Expression What molecules and proteins
What happens during this step?
Steps are involved in this step?
RNA polymerase, DNA, RNA, RNA polymerase converts a gene's DNA into an RNA
intron, extron transcript with a corresponding sequence.
Transcription

Spliceosome, intron, extron, To create mRNA, a spliceosome removes introns and

mRNA splices exons together.
RNA Splicing

mRNA mRNA is transported from the nucleus to the

mRNA cytoplasm.
Transport

mRNA, tRNA, ribosome, The ribosome translates the mRNA code into amino
polypeptide acids that are added to a polypeptide chain by tRNA.
Translation

polypeptide The polypeptide chain is folded into a functional protein

Protein in the golgi or the endoplasmic reticulum.
Processing

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 Click & Learn
Central Dogma and Genetic Medicine Student Worksheet

3. Mutations in the DNA can affect the structure and function of proteins. Some mutations may even cause
genetic diseases. Scientists and doctors can intervene at different points during gene expression to develop
treatments for such genetic diseases—or genetic medicine. Let’s learn about the genetic medicines that are
being developed.

Select the “Genetic Medicine” tab located on the top right of the screen. Click on the tab corresponding to the
genetic medicine(s) that your instructor assigns to you, or scroll through the interactive and click on the pink
“+” sign labeled with that genetic medicine. Read the “Genetic Medicine” tab material, watch the video, and
read the information in the “Learn more” link. Then, complete the appropriate row(s) below.

Detailed Description
Genetic Short Summary
Describe how this genetic medicine would be used to treat a genetic
Write a one-sentence summary of
Medicine disease. (For example, mention how it would fix the disease-causing
how this genetic medicine works.
mutation and/or result in a functioning protein.)
A DNA sequence can be CRISPR-Cas9 could be used to treat a genetic disease by
changed by cutting out or targeting a specific sequence to be cut. Then scientists can
CRISPR- editing a gene.
Cas9 take advantage of the cell's DNA repair mechanism to
correct a disease- causing mutation.

A therapeutic gene is Gene therapy can be used to replace mutated genes so the
inserted into a modified cell can produce a functional protein.
Gene
Therapy virus, which is injected near
the cells that need the
replacement gene.
Gene switches can alter This can be used to treat genetic disease by preventing a
gene expression by binding certain gene to be turned on or off.
Gene to different proteins.
Switches

Exon skipping removes a Exon skipping drugs can cause the exon containing the
mutations from the mRNA by gene mutation to be spliced out to allow for a partially
Exon changing how the RNA functional protein.
Skipping transcript with the mutation is
spliced.

Small RNA segments target This can be used to reduce the gene expression of a
mRNA for destruction, which disease causing mutation
RNA reduces gene expression of
Interference certain genes.

These molecules can be Small molecule drugs can block the negative effects of
Small easily taken up by cells and disease-causing proteins.
Molecule bind to the active site of a
Drug mutated enzyme.

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Central Dogma and Genetic Medicine Student Worksheet

4. Now let’s learn about some of the diseases that may be treated using these genetic medicines.

Scroll through the interactive and click on the pink “+” sign that is labeled with the disease(s) that your
instructor has assigned to you. Next, click on the “Case Study” tab at the top to reveal information about the
disease. Read the “Case Study” material, watch the video, and read the information in the “Learn more” link.
Then fill in the appropriate row(s) in the table below.

Name of What are the key characteristics of the disease and whom does it affect?
Disease How can the featured genetic medicine be used to treat the disease?

In 2-3 per 100,000 newborns, Leber Congenital Amaurosis causes extreme far-
sightedness or blindness. It's a rare hereditary condition caused by a mutation in one of
Leber 20 genes that interferes with the process by which retinal cells convert light into nerve
Congenital signals. Gene therapy can be used to improve a patient's vision by replacing a mutant
Amaurosis version of a gene.

Mutations in the gene -globin, one of the two substituents for adult hemoglobin, cause
sickle cell disease. Normally, fetal hemoglobin is turned off soon after birth, but gene
switch technology could make it a source of functional hemoglobin for sickle cell anemia
Sickle Cell patients.
Disease

Mutations in a gene that codes for the protein dystrophin in muscle cells cause
Duchenne muscular dystrophy. People with the condition develop progressive muscular
Duchenne weakening and, by their teens, are usually wheelchair-bound for the rest of their lives.
Muscular To splice off the dystrophin mRNA and enable the cells to create a partly functional
Dystrophy protein, exon skipping medicines may be utilized.

Huntington's disease is caused by a mutation in the huntingtin gene, which results in the
production of an aberrant protein and the death of brain cells. By deleting mutant
mRNA, RNA interference may limit the synthesis of the mutant huntingtin gene.
Huntington’s
Disease

Cystic fibrosis generates a thick, sticky mucus to block airways and glands, allowing life-
threatening infections to thrive. It is caused by one of the roughly 2,000 CFTR gene
mutations. Small molecule medications may boost protein levels in the cell membrane,
Cystic Fibrosis allowing the CFT R channels to stay open for longer.

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Central Dogma and Genetic Medicine Student Worksheet

APPLY WHAT YOU HAVE LEARNED

5. You are a researcher working on a treatment for Hutchinson-Gilford progeria syndrome, an extremely rare
genetic disorder that causes accelerated aging in children. Children with progeria generally appear healthy
at birth but soon start growing more slowly than other children and lose their hair. Additional symptoms
include stiffness of joints, heart problems, and stroke. These children typically die of heart disease at an
average age of 13 years.

Progeria is caused by a mutation in a single gene, called lamin A. Scientists have identified over 1,400
mutations in the lamin A gene that result in changes in transcription, RNA splicing, and/or protein
production. Lamin A codes for a protein required for the structural support of the nuclear envelope in cells.
Without a functional protein, the nuclear envelope becomes unstable, eventually damaging the nucleus and
causing cells to die.

Based on what you learned in this Click & Learn, propose a genetic medicine strategy you could develop to
treat patients with progeria. Describe which step in gene expression you might target and why you would
target that step, the intervention tool you would use, and explain how this strategy would treat the disease.
Gene editing may be utilized to treat progeria sufferers. You could use CRISPR to delete the mutation
so that it isn't expressed, and the gene is fixed and creating working proteins. Before transcription and
RNA splicing, this would repair the gene. Children with progeria would have their cells fixed using
CRISPR, allowing them to live a longer life.

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