St.

Francis College
ALLEN, NORTHERN SAMAR

Learning Module in General Biology 1

MODULE 5
DISORDERS AND DISEASES: CELL CYCLE

WEEK: 9 & 10
GRADE LEVEL: 11
LEARNING COMPETENCY:
 Identify disorders and diseases that result from the malfunction of the cell during the cell cycle (,
STEM_BIO11/12-Id-f-9)

I. CONCEPT
Did you know that our body is made up of trillions of tiny building blocks called cells that come together to
form complex tissues and organs? Tissues and organs grow and repair through cell division where a single parent cell
divides to produce two identical daughter cells. Deoxyribonucleic Acid provides the chemical instruction manual or
the blueprint for cell division. Each cell contains six feet of DNA and it will be broken into 46 distinct packages of
information. And every time a cell divides it must copy all this information and then deliver an identical set of DNA
to each one of its daughter cells. But glitches in that process can give birth to abnormal cells that misbehaves and fuel
the development of diseases like cancer. Come on, let us investigate the mechanisms how errors in cell division leads
to human disease.

II. EXAMPLE AND DISCUSSION

Mistakes during cell division frequently generate changes in chromosome content. Errors in cell division
can be categorized into the following:

A. Nondisjunction. This happens when the sister

chromatids fail to separate. One cell is given
three copies (trisomy) of a chromosome while
the other gets only one (monosomy).
Nondisjunction causes errors in chromosome
number such as Trisomy 21 (Down Syndrome)
and monosomy X (Turner syndrome. It is also
common cause of early spontaneous abortions.

B. Deletion. Sometimes during mitosis, the

chromosomes can be damaged. If the
chromosomes gets broken the fragments can be
lost. If this happens the genetic material, they
contain is deleted. Deletions are responsible for
an array of genetic disorders, including some
cases of male infertility, Duchene muscular
dystrophy and cystic fibrosis, and spinal
muscular atrophy, the most common genetic

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 cause of infant death. Symptoms of spinal muscular atrophy includes muscle weakness and decreased
muscle tone, limited mobility, breathing problems, delayed gross motor skills and scoliosis.

C. Duplication. In chromosomal duplications, extra

copies of a chromosomal region are formed,
resulting in different copy numbers of genes within
that area of the chromosome. Duplications may
affect phenotype by altering gene dosage. Example
of a disease resulting from chromosomal duplication
is the Charcot-Marie Tooth disease type. It is one of
the most common inherited nerve disorder
characterized by a progressive loss of muscle tissue
and touch sensation across various parts of the body,
from the arms, legs to the spinal cord and brain.

D. Translocation. If the chromosome breaks, it

can reattach. Sometimes it reattaches to the
wrong chromosome. In reciprocal
translocation, segments from two different
chromosomes are exchanged while in
Robertsonian translocation, an entire
chromosome attaches to another.
Translocations generate novel chromosomes
but are often linked to disorders like infertility
and cancer. Several forms of cancer are caused
by acquired translocations which has been
described mainly in leukemia. Chromosomal
translocation can also result to infertility in
which one of the would- be parents carries a
balanced translocation, where the parents are
asymptomatic but conceived fetuses are not
viable.

E. Inversion. When the fragment gets reattached,

it gets reattached to the right chromosome but
upside down. When this happens, it gives incorrect
codes for information. In some cases, chromosomal
inversion has been associated with congenital
anomalies, growth retardation, infertility, recurrent
pregnancy loss, and cancer.

DISEASES CAUSED BY MITOTIC ERRORS

Mitosis is a process where a single cell divides into two identical daughter cells (cell division). During
mitosis one cell divides once to form two identical cells. The major purpose of mitosis is for growth and to replace
worn out cells. If not corrected in time, mistakes made during mitosis can result in changes in the DNA that can
potentially lead to genetic disorders.

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 Although errors in mitosis are rare, the process may go wrong especially during early cellular divisions in
the zygote. Mitotic errors can be especially dangerous to the organism because future offspring from this parent cell
will carry the same disorder such as the following:

Cancer. The Deoxyribonucleic Acid (DNA), sometimes called a genetic blueprint, contains the hereditary
material in nearly all organisms. The improper copying of DNA produces two types of errors, or mutations. Silent
mutations have no impact on the DNA sequence, but missense mutations, which alter amino acid sequences, often
impact the associated function. Missense mutations can multiply over time, leading to cell cycle disruption and the
formation of tumors, which are the product of runaway cell reproduction. Cancer occurs when mutated cells ignore
or override the normal "checkpoints" regulating mitosis and begin to reproduce uncontrollably.

Hemophilia. It is a blood-clotting disorder which is linked to what geneticist refer to as Mosaicism, wherein
some cells may have a mutant version of a gene while others have the normal version of the same gene.

Marfan syndrome. It is a genetic disorder that affects the body’s connective tissue.
Connective tissue holds all the body’s cells, organs and tissue together. It also plays an important role in helping the
body grow and develop properly. Connective tissue is made up of proteins. The protein that plays a role in Marfan
syndrome is called fibrillin-1. Marfan syndrome is caused by a defect (or mutation) in the gene that tells the body
how to make fibrillin-1. This mutation results in an increase in a protein called transforming growth factor beta, or
TGF-β. The increase in TGFβ causes problems in connective tissues throughout the body, which in turn creates the
features and medical problems associated with Marfan syndrome and some related conditions. Because connective
tissue is found throughout the body, Marfan syndrome can affect many different parts of the body, as well. Features
of the disorder are most often found in the heart, blood vessels, bones, joints, and eyes. Some Marfan features – for
example, aortic enlargement (expansion of the main blood vessel that carries blood away from the heart to the rest of
the body) – can be life-threatening. The lungs, skin and nervous system may also be affected. Marfan syndrome does
not affect intelligence.

DISEASES/DISORDERS FROM ERRORS DURING MEIOSIS

Meiosis is the process in which sex cells divide and create new sex cells with half the number of
chromosomes. When something goes wrong during meiosis, the mistake often happens during replication of DNA. If
a sex cell that has suffered a nondisjunction event is combined with a sex cell from the opposite sex, the resulting
zygote will have more or less than 46 chromosomes. This means that when that baby is born, it will have more or less
than 46 chromosomes. This person will also have either too many or too few genes. Scientists refer to the condition
whereby cells have an incorrect number of chromosomes as aneuploidy. If one of the original cells had an extra
chromosome, the person will have trisomy. People with trisomies have three copies of a particular chromosome
(instead of two). This means these individuals have a total of 47 chromosomes (n+1). Trisomy 21. This is also called
Down syndrome. Children with Trisomy 21 may experience delays when learning to crawl, walk and speak. As they
get older, they may have trouble with reasoning and understanding. Two other examples are Trisomy 13 (Patau
syndrome) and Trisomy 18 (Edward’s syndrome). They can both cause serious brain, heart and spinal cord defects.
Many babies born with these syndromes only live a few days.
In a female fetus, an extra X chromosome causes Triple X syndrome. It is associated with learning disabilities
and organ abnormalities. In a male fetus, Klinefelter syndrome is the result of an extra X chromosome (XXY). Males
with this condition have smaller testicles and are infertile. Finally, males born with an extra Y chromosome (XYY)
have Jacob’s syndrome. The symptoms include language difficulties, problems with sitting and walking, and
behavioral emotional issues. People with an extra Y chromosome may also have mild autism and weak muscle tone
(hypotonia).
A woman age 35 years old or older is at higher risk of having a baby with a chromosomal abnormality. This
is because errors in meiosis may be more likely to happen as a result of the aging process. Women are born with all of
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their eggs already in their ovaries. The eggs begin to mature during puberty. If a woman is 35 years old, the eggs in
the ovaries are also 35 years old. You may be referred for genetic counselling or testing if you are age 35 or older
when you are pregnant. Men make new sperm continuously so age does not increase the risk for chromosome
abnormalities for older fathers but newer studies suggest that rare abnormalities do occur.

DID YOU KNOW? Almost 6% of all babies are born with some form of genetic disorder.
Worldwide, that’s about 8 million babies every year.

III. ACTIVITY
Directions: Answer the following questions comprehensively.

1. What is a genetic disorder?

2. Can cells be able to fix mistakes in the DNA replication? Explain your answer.

3. Explain why parents that do not have Down syndrome can have a child with Down syndrome?
4. Explain the risks of a woman conceiving at age 35 or older. When do you think is the best age to conceive?

IV. REFERENCES

1. Mitosis.The Editors of Encyclopedia Britannica. Retrieved from https://www.britannica.com/science/mitosis

on June 5, 2020.

2. Meiosis in Humans. Embryo Project Encyclopedia (2011-03-24). ISSN: 1940-5030 Retrieved from
http://embryo.asu.edu/handle/10776/2084 on June 5 2020

3. The Cell Cycle, Mitosis and Meiosis. Retrived from

https://www2.le.ac.uk/projects/vgec/highereducation/topics/cellcycle -mitosis-meiosis on June 5, 2020

4. What Happens When Mitosis Goes Wrong. Retrieved from https://sciencing.com/happens-mitosis-goes-

wrong-8400.html JUne 7, 2020

5. Mistakes during meiosis. Retrieved from (https://letstalkscience.ca/educationalresources/stem-in-

context/meiosis-mistakes) on June 7, 2020

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