ABU-DLC

GROUP 7 ASSIGNMENT

HPHY -225: Human Physiology I

Course Lecturer: Haruna O. Suleiman
BNSC 2020/2021

Q. Write Short Note on the Following:

a. Genetic Disease
b. Abnormal Cellular Function.

SUBMITTED BY:

Names Admission no.

1. Leah Ndi SYLVESTER U20DLNS20131
2. Omogomano R. OGHENEOVO U20DLNS20364
3. Anna JOHN- U20DLNS20431
4. Olajide SAMUEL U20DLNS20431
5. Bilhatu YUSUFU U20DLNS20280
6. Taire EBEN U20DLNS20202
7. Suzana MARKUS U20DLNS20134
8. Nneka Catherine OKONKWO U20DLNS20311
9. Veronica OJUKWU U20DLNS20297

21st April, 2021

1.0 Genetic Disease
A genetic disease is any disease that is caused by an abnormality in an individual's genome, the
person's entire genetic makeup. Some genetic disorders are inherited from the parents, while
other genetic diseases are caused by acquired changes or mutations in a preexisting gene or
group of genes. Mutations can occur either randomly or due to some environmental exposure.

1.1 Causes of Genetic Diseases

Genetic disorders can be inherited, even if they are not noticeable at first. Some disorders,
however, are not inherited but develop spontaneously when disease-causing mutations occur
during cell division. These also are genetic disorders, because they involve changes in the genes.
Some inherited genetic disorders (e.g., cystic fibrosis) are caused simply by the inheritance of
genes that do not work properly. In other disorders, however, genetic and environmental factors
seem to work together to cause changes in otherwise normal genes. E.g., some forms of radiation
or chemicals can cause cancer in people who are prone to be affected because of their genetic
makeup. Sixty percent of all birth defects do not have any known cause. Chromosomal defects
account for only about 6 percent of all birth defects. Multifactorial inheritance accounts for
approximately 20 percent of congenital anomalies. Teratogens cause about 4 to 5 percent of all
birth defects.

1.2 Common Inheritance Patterns of Genetic Diseases

Single Gene/Mendelian Inheritance. Also called Mendelian or monogenetic inheritance. This
type of inheritance is caused by changes or mutations that occur in the DNA sequence of a single
gene. These disorders are known as monogenetic disorders (disorders of a single gene). E.g.,
cystic fibrosis, sickle cell anaemia, hemochromatosis etc. Single-gene disorders are inherited in
recognizable patterns: autosomal dominant, autosomal recessive, and X-linked.

1.3 Single-Gene Autosomal Diseases

Most genetic disorders are caused by defective genes on the autosomes.
Autosomal dominant disorder:
It takes only one copy of the gene to cause the disorder. So, if a child inherits the disease, at
least one of the parents has the disease as well. It is possible for the gene to change by itself in
the affected person. This change is called a mutation.
Autosomal recessive disorder:
If two people without the disorder have a child with the disorder, both parents carry one copy of
the abnormal gene.

1.4 Single-Gene Sex-Linked Diseases

X-linked dominant disorders are rare. In an X-linked recessive disorder: Nearly all people with
sex-linked disorders are male. The disorder is transmitted through the female, because a son's X
chromosome always comes from his mother. She is unaffected, however, because she has a
second X chromosome which usually contains a normal gene for the trait. A male with the
disorder never transmits it to his sons, because a father passes his X chromosome only to his
daughters. A son born to a female carrier has a 50% chance of having the disorder. All daughters
of an affected male will be carriers.

1.5 Multiple-Gene Diseases/ Multifactorial Inheritance

Many disorders are exceptions to the Mendelian laws of inheritance. Genetic disorders caused by
a combination of many genes are called multifactorial disorders. Multifactorial inheritance
disorders are caused by a combination of environmental factors and mutations in multiple genes.
E.g., different genes that influence breast cancer susceptibility have been found on chromosomes
6, 11, 13, 14, 15, 17, and 22. Examples of multifactorial inheritance include: heart disease, high
blood pressure, Alzheimer’s disease, arthritis, diabetes, cancer and obesity.

1.6 Chromosome Disorders

Chromosomes, distinct structures made up of DNA and protein, are located in the nucleus of
each cell. Because chromosomes are the carriers of the genetic material, abnormalities in
chromosome number or structure can result in disease. Abnormalities in chromosomes typically
occur due to a problem with cell division.
A chromosomal disorder may be inherited or may be sporadic (there is no family history). The
most common types are:
a. Aneuploidy means there is the wrong number of chromosomes. This can be too many or too
few. Trisomies 13, 18 and 21 are examples of an extra chromosome. In Turner syndrome,
 one of the sex chromosomes is not transferred, leaving a single X chromosome, or 45 rather
than the usual 46.
b. Deletion means that a part of a chromosome is missing, which ultimately means that the
genetic material on the missing section of chromosome is also missing. An example of a
deletion syndrome is the Cri du Chat syndrome in which a portion of chromosome 5 is
deleted.
Inversion refers to a chromosome that has broken. The broken piece turns upside down and
reattaches itself. Inversions may or may not cause birth defects depending on their exact
structure.
c. Translocation refers to a rearrangement of a chromosomal segment from one location to
another. A balanced translocation has an equal exchange, so no genetic material is added or
lost and this person may never be aware of the translocation. For a person with a balanced
translocation there is, however, risk to their offspring. The risk is that the chromosome may
be passed on as an unbalanced chromosome. An unbalanced translocation means genetic
material is added or lost and can cause a variety of problems in varying degrees for the
offspring.
d. Mosaicism is the presence of two or more chromosome patterns in the cells of a person. This
results in two or more cell lines, which means some cells will have 46 chromosomes and
some will have a number other than 46 (either greater than or less than 46).

Chromosomes

Chromosomes 2
Chromosomes 3

1.7 Spontaneous Genetic Mutations

Particularly in the case of dominantly-inherited disorders, a child may be born with a condition
despite the fact that neither parent has the disorder as would be expected.
The mutation may occur in a parent's egg or sperm cell, or it may occur after the egg has been
fertilized and begins to develop into an embryo.
This is frequently the case in achondroplasia, a form of dwarfism in which 90 percent of children
born with the condition have unaffected parents. When this child grows up, the child will pass
the gene on to his or her children according to the autosomal dominant inheritance pattern.

1.8 Risk Factors for Chromosomal Abnormalities

Many chromosomal abnormalities occur in about 1 of 200 live births and account for at least half
of all miscarriages that occur during the 1st trimester.
Most fetuses that have chromosomal abnormalities die before birth.
Among live-born babies, Down syndrome is the most common chromosomal abnormality.
Several factors increase the risk of having a baby with a chromosomal abnormality:

1. Woman’s age
2. Family history
3. Birth defect in a previous baby
4. Previous miscarriages
5. Chromosomal abnormality in a prospective parent

1.9. Common Examples

Trisomy 13: It has a reported incidence of 1 in 2,200 to 7,600 live births. It is associated with
major congenital anomalies. The most common of which include: holoprosencephaly (the two
cerebral hemispheres are fused) or other central nervous system abnormalities, abnormal midface
development including clefting, and congenital heart defect. Many fetuses with Trisomy 13 die
before they reach term. Fifty to eighty percent of infants with Trisomy 13 that are born alive will
die by the age of 1 month and 75 to 90 percent have died by age 6 months. Very rarely, affected
persons have survived to adulthood.
Other examples include the following:

Achondroplasia Albinism
Diabetes insipidus Alzheimer's disease
Huntington's disease Cystic fibrosis
 Hemophilia Cancers of breast, colon, lung
Neurofibromatosis Phenylketonuria (PKU)
Hunter's syndrome Gout
 Sickle-cell anemia Muscular dystrophy
 Tay-Sachs disease

Management: Management is completely dependent on the disorder or syndrome, the prognosis

of the disorder and parental wishes. Some disorders have very short life expectancies for which
treatment would not be beneficial. However, some children with genetic disorders can and do
function well with normal life expectancies. Others can be variable depending on the associated
birth defects. For example, some Trisomy 21 babies can go home from the newborn nursery
with minimal problems and others have multiple congenital anomalies that require numerous
surgeries and more than one system can be affected. The treatment for these babies will be a
collaborative effort of providing information as accurately as we can and allowing the parent to
be the primary decision makers about the care to be provided.
Gene Therapy: Genetic disorders can be treated in a number of ways. In some disorders, special
diets are used to prevent the buildup in the body of compounds that are toxic to patients. In other
disorders, the treatment involves blocking or rerouting chemical pathways. A third kind of
treatment is new and controversial. It involves actually replacing defective genetic material with
normal genetic material inside the cells. Researchers currently are looking for ways to do this.

Prenatal Testing: Tests for prenatal diagnosis are done on samples taken from the tissue or fluid
surrounding a fetus. The fetus's chromosomes then can be studied using a karyotype, which is a
visual display of the chromosomes from cells viewed under a microscope. Newer techniques
enable scientists to look directly at the DNA that makes up the genes contained in the
chromosomes. Common prenatal tests are amniocentesis, Chorionic Villus Sampling (CVS) and
Percutaneous Umbilical Blood Sampling (PUBS).

Ultrasound: Ultrasound is a noninvasive test performed almost routinely now on all pregnant
women. It looks at the anatomy of the fetus. Therefore, if a specific part of the anatomy causes
suspicion, there may be need to repeat ultrasounds to see if it changes through the process of
development. It also provides information about the position of the baby, amount of amniotic
fluid, the position and structure of the placenta, cord position, length of the cervix and can
provide more specialized views of blood flow and velocity within the heart and umbilical cord. It
cannot tell definitively if the baby has a genetic disorder, but will provide information about
anatomical disorders.

1.10 Implication for Nursing

A genetic disorder may not be suspected unless there is a known family history, anomalies that
cause suspicion are noted during an ultrasound, or there are known maternal factors that cause
concern, such as an infection, drug ingestion, exposure to a teratogen, maternal health issues etc.
Nurses should educate clients on these procedures and the benefits, risk and limitations of these
options. A vitamin supplement recommended prior to conception that is not normally consumed
in a sufficient quantity is folic acid. Folate (the natural form of folic acid found in foods) is found
in fortified grains and breakfast cereals, dried beans, orange juice and leafy greens.
Folic acid supplements should be taken for three months prior to the pregnancy and through the
first trimester. The recommended daily allowance (RDA) for folic acid is 0.2 mg. The RDA for
pregnancy is 0.4 mg. For a lactating mother, the RDA is again 0.2 mg. If there is a history of a
prior child who has been affected by a neural tube defect, the recommendation for
supplementation in future pregnancies is increased to 4 mg a day, beginning at least one month
prior to conception and continuing through the first trimester. Smoking must be stopped before
conception or at least reduced. The more a woman smokes, the greater the risk. Smoking during
pregnancy is known to lead to pregnancy complications and serious health problems for the
infant. Smoking slows fetal growth, thus increasing the risk of a low-birth weight baby.
Indiscriminate use of medications should be discouraged. It is recommended that pregnant
women and women who may become pregnant avoid alcohol consumption even in small
amounts. No level of alcohol use has been proven safe during pregnancy. If the family have a
history of any kind of birth defect, or if at high-risk because of age, ethnicity or medical history,
they should be referred to a genetic counselor for prenatal consultation.

2.0 Abnormality of Cellular Function

Cell is a functional and structural unit of the body which possess the feature to replicate the
characteristics of parents to offspring. some cell types, such as those that compose the skin and
bone marrow, continue to proliferate throughout life, other types including bone and muscle cells
cease active proliferation when a human reaches adulthood. Most normal cells remain in a non-
proliferative state unless they are stimulated to divide to replace lost cells. Abnormal regulation
of the cell cycle can lead to the over proliferation of cells and an accumulation of abnormal cell
numbers. Cancer cells arise from one cell that becomes damaged, and when divided, the damage
is passed on to the daughter cell and again to the granddaughter cells and so on. Such
uncontrolled, abnormal growth of cells is a defining characteristic of cancer. The total number of
cells composing the human body is determined not only by the rate of proliferation of cells but
also by the rate of cell loss. Excess cells and those that are aged or have sustained damage that
impairs normal functioning are eliminated to prevent accumulation of abnormal numbers of
cells. The mechanism for regulating the removal of excess and impaired cells is known as
apoptosis. Also referred to as cell suicide or programmed cell death, apoptosis is an orderly
process during which internal cellular structures are progressively dismantled, the impaired cell
shrinks and finally is rapidly destroyed by immune cells.
Abnormal cells are either low-grade or high-grade. Low-grade cells are only slightly abnormal.
High-grade cells look less like normal cells and may develop into cancer. The abnormal cells are
sometimes called carcinoma in situ or pre-cancer.

2. 1 Types of Cancer
Benign: These are not cancerous. They either cannot spread or grow, or they do so very slowly.
If a doctor removes them, they do not generally return.
Premalignant: In these tumours, the cells are not yet cancerous, but they have the potential to
become malignant.
Malignant: Malignant tumours are cancerous. The cells can grow and spread to other parts of the
body.
It is not always clear on how a tumour will act in the future. Some benign tumour can become
premalignant and then malignant. For this reason, it is best to monitor any growth.

2.2 Signs and Symptoms of Cancer (Abnormal cells)

i. Unexplained weight loss. ...
ii. Ongoing tiredness. ...
iii. Unexplained or irregular bleeding. ...
iv. Swelling in the neck of affected body part.
v. Persistence pains may be due to pressure on the affect nerves...
vi. Persistent bloating. ...
vii. Changes to bowel habits. ...
viii. Non-healing skin blemishes.

2.3 Treatment of Cancer (Abnormal Cells)

i. Surgery. When used to treat cancer, surgery is a procedure in which a surgeon removes
cancer
from your body. Others include:
ii. Radiation Therapy. ...
iii. Chemotherapy. ...
iv. Immunotherapy to Treat Cancer. ...
v. Targeted Therapy. ...
vi. Hormone Therapy. ...
vii. Stem Cell Transplant. ...

References

1. "Genetic Disorders". learn.genetics.utah.edu. Retrieved 2019-07-01.

2. Lvovs, D.; Favorova, O.O.; Favorov, A.V. (2012). "A Polygenic Approach to the
Study of Polygenic Diseases". Acta Naturae. 4 (3): 59 71. doi:10.32607/20758251-
2012-4-3-59-71. ISSN 2075-8251. PMC 3491892. PMID 23150804.
3. Reference, Genetics Home. "What are the different ways in which a genetic
condition can be inherited?". Genetics Home Reference. Retrieved 2020-01-14.
4. www.abdudlc.edu.ng