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.
Gene expression is the process through which information from a gene is used to create usable quality things or products, typically proteins. All known life uses
gene Expression—eukaryotes (including multicellular life forms), prokaryotes (microbes and archaea), and infections—to generate macromolecular hardware
indefinitely. Many stages of the Gene Expression procedure can be balanced or modulated, including transcription, translation, RNA splicing, and protein post-
translational modification. Gene regulation gives the cell dominion over form and function and is the reason for cell separation, morphogenesis, and any living
being's adaptability and versatility. Control of the planning, area, and measure of gene expression can drastically impact the capacities (activities) of the quality in
a cell or a multicellular life form. Therefore gene regulation may also serve as a substrate for developmental change.

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 polymerase converts a gene’s DNA into an
RNA, intron, extron RNA transcript with a corresponding sequence.
Transcription

Splicesome, intron, extron, To create mRNA, A slicesome removes intron and

mRNA splices exons together.
RNA Splicing

mRNA mRNA moves from the nucleus to the cytoplasm.

mRNA
Transport

mRNA, tRNA, ribosome, The ribosome converts mRNA code into amino
polypeptide acids, which are the incorporated to a polypeptide
Translation chain by tRNA.

Polypeptide In the golgi or the endoplasmic reticulum, the

Protein polypeptide chain folds into a functional protein.
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 utilized to treat a genetic
altered by removing or condition by directing the cutting of a specific seuence.
CRISPR- altering a gene. Then, utilizing the cell’s DNA repair system, scientist
Cas9 can correct a disease-causing mutation.

A therapeutic gene is Gene therapy can be used to replace faulty genes in

inserted into a modified order for the cell to produce a functional protein.
Gene virus, which is injected near
Therapy the cells that need the
replacement gene.

By attaching to different This can be used to treat genetic diseases by inhibiting

proteins, gene switches the activation or deactivation of a certain gene.
Gene can change gene
Switches experssion.

Exon skipping eliminates Exon skipping medications can cause the exon that
from mRNA by altering the contains the gene mutation to be spiced out, resulting
Exon splicing of the RNA in a partially functional protein.
Skipping transcript containing the
mutation.

Small RNA segments This can be used to suppress the expression of a

destroy mRNA, which disease-causing mutation’s gene.
RNA lowers gene expression in
Interference particular genes.

These compounds are Small molecule medications can counteract the harmful
Small easily absorbed by cells effects of disease-causing proteins.
Molecule and attach to the active site
Drug of a mutant 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 out of every 100,000 newborns, Leber Congenital Amaurosis causes

Leber extreme far-sightedness or blindness. It is an uncommon hereditary condition
Congenital caused by a mutation in one of 20 genes that interferes with the process by which
retinal cells convert light to nerve signals. To improve a patient's vision, gene
Amaurosis
therapy can be utilized to replace the mutant version of a gene.

Mutations in the gene -globin, one of the two substituents for adult hemoglobin,
cause sickle cell disease. Fetal hemoglobin is normally turned off shortly after
Sickle Cell birth, but using gene switch technology, it could be used to provide functional
Disease hemoglobin to sickle cell anemia sufferers.

Mutations in a gene that codes for the protein dystrophin in muscle cells cause
Duchenne muscular dystrophy. People with the condition experience
Duchenne progressive muscle weakening and are usually wheelchair-bound by their
Muscular adolescence. Exon skipping medicines can be used to splice out dytrophin
Dystrophy mRNA, allowing cells to create a partially functional protein.

Huntington's disease is caused by a mutation in the huntingtin gene, which

results in the synthesis of an aberrant protein and the death of brain cells.
Huntington’s RNA interference can diminish the production of the mutant huntingtin gene
Disease by eliminating the mutant mRNA.

Cystic fibrosis produces a thick, sticky mucus that obstructs airways and
glands, providing a breeding environment for potentially fatal infections. It is
caused by one of the over 2,000 CFTR gene mutations. Small molecule
Cystic Fibrosis
medications can increase the quantity of protein in the cell membrane,
allowing the CFT R channels to remain open for a longer period of time.

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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 could be used to treat patients with progeria. By using

CRISPR, you could remove the mutation so it is not expressed, and
the gene is corrected and producing functioning proteins.This would
correct the gene before transcription and RNA spilcing. By using
CRISPR, the cells of children with progeria would be fixed, so the
children could live a longer life.

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