GENETIC

DISORDERS
BIOCHEMISTRY ASSIGNMENT
BIOCHEMISTRY ASSIGNMENT

Submitted by: Chalsea Dyann Joie B. Galzote

FIVE GENETIC DISORDERS

Cystic Fibrosis
Cystic fibrosis is a hereditary disorder that affects the
respiratory, digestive, and reproductive systems. It is
caused by mutations in the CFTR gene, leading to the
production of thick and sticky mucus that can clog the
airways and pancreatic ducts, causing respiratory and
digestive problems.

Huntington's Disease
Huntington's disease is a progressive neurological
disorder characterized by the degeneration of nerve cells
in the brain. It is caused by a mutation in the HTT gene,
leading to the production of a toxic protein. Symptoms
include involuntary movements, cognitive decline, and
psychiatric symptoms, typically appearing in adulthood.

Down Syndrome:
Down syndrome, also known as trisomy 21, is a genetic
disorder caused by the presence of an extra chromosome
21. This additional genetic material leads to
developmental delays and intellectual disabilities.
Individuals with Down syndrome may also have
distinctive physical features and an increased risk of
certain health issues.
FIVE GENETIC DISORDERS

Sickle Cell Anemia

Sickle cell anemia is a genetic blood disorder
characterized by the presence of abnormal hemoglobin,
causing red blood cells to take on a sickle shape. These
misshapen cells can lead to blockages in blood vessels,
resulting in pain, anemia, and increased susceptibility to
infections. The condition is caused by mutations in the
HBB gene.

Duchenne Muscular Dystrophy

Duchenne muscular dystrophy (DMD) is a progressive
muscle-wasting disorder caused by mutations in the DMD
gene. This gene is responsible for producing a protein
called dystrophin, crucial for muscle function. In the
absence of functional dystrophin, muscles gradually
weaken and degenerate, leading to difficulties in
movement and, ultimately, respiratory and cardiac
complications. DMD primarily affects boys and typically
becomes evident in early childhood.