Understanding Monogenic

and Mitochondrial Diseases

This presentation will discuss examples of monogenic and mitochondrial
diseases, their inheritance patterns, current treatments and future directions
in research.
by Ervin Hoxha
Monogenic Diseases
Sickle Cell Anemia
An autosomal recessive disorder
caused by a mutation in the beta-
globin gene. Symptoms include
anemia, pain crises, organ
damage and stroke. Treatment
includes pain management and
bone marrow transplants.
Huntington's Disease
An autosomal dominant disorder
caused by a mutation in the
huntingtin gene. Symptoms
include involuntary movements,
psychiatric issues and cognitive
impairment. There is no cure, but
some symptoms can be managed
with medication.
Cystic Fibrosis
An autosomal recessive disorder
caused by a mutation in the CFTR
gene. Symptoms include lung
infections, digestive problems and
infertility. Treatment includes
antibiotics, enzyme replacements
and lung transplant.
Mitochondrial Diseases
Leigh Syndrome
A severe neurological
disorder caused by
mutations in mitochondrial
DNA. Symptoms include
developmental delays, loss
of motor skills and muscle
weakness. Treatment is
limited to supportive care.
MELAS Syndrome
A multisystem disorder
caused by mutations in
mitochondrial DNA.
Symptoms include stroke-
like episodes, muscle
weakness and seizures.
Treatment includes
supportive care and
supplements that help
mitochondria function better.
Kearns-Sayre
Syndrome
A rare genetic disorder
caused by large-scale
deletions of mitochondrial
DNA. Symptoms include
vision loss, hearing loss and
heart problems. Treatment
includes supportive care and
supplements that help
mitochondria function better.
Monogenic vs. Mitochondrial Diseases:
How are they inherited?
Mitochondrial Diseases
They are caused by mutations in
mitochondrial DNA, which is inherited
from the mother. All children of an
affected mother may inherit the disease,
but it can skip generations.
1 Monogenic Diseases
They are caused by a mutation in a
2 single gene and can be inherited in an
autosomal dominant, autosomal
recessive or X-linked pattern.
3 Current Treatments
Current treatments for both monogenic
and mitochondrial diseases focus on
managing symptoms and improving
quality of life. Some diseases have
specific treatments, such as enzyme
replacements or gene therapies.
Future Directions in Research and
Treatment

Genetic Editing Stem Cell Therapy Mitochondrial

New genetic editing techniques Stem cell therapy has the Replacement Therapy
such as CRISPR-Cas9 may one potential to replace damaged A new technique that involves
day allow for targeted correction cells or tissues in diseases such replacing the mother's mutated
of disease-causing mutations. as cystic fibrosis and mitochondria with healthy donor
Huntington's disease. mitochondria to prevent the
transmission of mitochondrial
diseases.
In Conclusion
1 Monogenic and 2 They can have a
mitochondrial diseases variety of symptoms
are caused by different and inheritance
types of genetic patterns.
mutations.
3 Current treatments are limited, but new techniques
offer hope for the future.
Questions and Comments
Thank you for listening. Please feel free to ask any questions or leave any
comments you may have.