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MITOCHONDRION GENETICS

Academic year and teacher
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Versione italiana
Academic year
2022/2023
Teacher
MAURO TOGNON
Credits
2
Didactic period
Secondo Semestre
SSD
BIO/13

Training objectives

The course aims to ensure to the student the basic knowledge of the genetics of mitochondria and to highlight how genetics influences the normal and pathological functioning of mitochondria.
Regarding the parameters of:
Student's knowledge:
At the end of the course, the student will be able to understand:
1. how genetics regulates the expression of mitochondrial genes;
2. the relationship of the mitochondrial genome with the nuclear genome of the host cell;
3. the function of mitochondria;
4. how genetic mutations of mitochondria affect the development of human diseases, including musculoskeletal pathologies;
Student's know-how:
At the end of the course the student will have the ability:
1. to evaluate the differences between mitochondrial and nuclear genetic expression of the human cell;
2. to have mastery of the functional aspects of the mitochondria in relation to its genetics;
3. to evaluate the genetic mutations associated with mitochondrial dysfunctions in the field of the human diseases, including musculoskeletal pathologies.

Prerequisites

Principles of general and cellular biology, general and molecular genetics, chemistry.

Course programme

General concepts of cell evolution. Origin of mitochondria: the endosymbiotic theory. Structure of mitochondria. Mitochondria in human cells: distribution and role, heredity, homoplasmy and heteroplasmy. The genome of mitochondria: mitochondrial genes and relationship with the nuclear genome of the host cell. Molecular genetics of mitochondria: DNA replication, transcription of mitochondrial genes and translation of proteins. The function of mitochondria: ATP production / cellular respiration, apoptosis, heme synthesis, cholesterol synthesis. Notes on Mendelian and non-Mendelian transmission of mitochondria. The genetics of mitochondria and associated human diseases, including the musculoskeletal pathologies.

Didactic methods

The course provides recorded lectures delivered on-line on the classroom platform.

Learning assessment procedures

The learning assessment will be carried out by means of a written exam lasting 30 minutes, without the use of books or notes, in the presence of the teachers. The 31 questions will be formulated with multiple choice questions (five options for each question), related to all the educational objectives as defined above. There will be no penalty for incorrect or not given answers. The questions will be aimed to verify the knowledge of mitochondrial genetics acquired by the student in relation to all the didactic parts of the program, with reference both to the basic knowledge of mitochondrial genetics, and to the mitochondrial mutations associated to human diseases, including musculoskeletal pathologies.
To pass the exam it will be necessary to acquire a minimum score of 18 out of 30. The sufficiency threshold is reached with 18 correct answers. The score is given in thirtieths. The maximum score, equal to thirty cum laude, is reached correctly answering all the questions.

Reference texts

1.Molecole, cellule e organismi. Autori vari. A cura di E. Ginelli e M. Malcovati. Casa Editrice EdiSES, Napoli.
2.Biologia cellulare e molecolare. Concetti ed esperimenti. Casa Editrice EdiSES. Napoli.
Texts should be no older than 5 years.
Teaching material uploaded online on the classroom platform by the professor, such as pdf slides of the lessons and book chapters.