The course will focus on studying the molecular mechanisms whose alterations are the basis of human metabolic diseases. The course will also address the molecular techniques of genome typing for both the diagnosis of genetic diseases and the assessment of the genetic predisposition to metabolic diseases will be considered.

Topics.

1. Introduction. 0.29 CFU (2 hours)

Biochemical genetics. The WTO definition of health. Disease, disorder, condition, syndrome. The inherited metabolic diseases. The multifactorial metabolic disorders. The endocrine-metabolic diseases.

2. Anatomy of the human genome. 1.71 CFU (12 hours)

Genome packaging in eukaryotes. Satellite DNA. Alphoid probes. The centromere. Eukaryotic chromosome structure. Transposons. Barbara McClintock's controlling elements. Retrotransposons. LINEs and SINEs repeat. The Alu family. Gene and gene-related sequences in the human genome. Gene family. α- and β-globin loci. Pseudogenes. Ribosomal DNA (rDNA). Nucleolus organizer region.

3. Mutations causing inherited metabolic diseases. 0.86 CFU (6 hours)

The molecular basis of mutations. Point mutations. Replication slippage. Chromosomal mutations. Karyotype aberrations. Hemoglobinopathies and Thalassemia. SNPs and Alzheimer's disease.

4. Genetics of metabolic disorders. 0.86 CFU (6 hours)

Effects of the mutant allele. Haploinsufficiency. Overdominance. Results of a mutation in structural genes. Achondroplasia. Autosomal dominant single-gene diseases: incomplete penetrance, variable expressivity. Waardenburg syndrome. Autosomal recessive single-gene diseases: pleiotropy, complementation. X-linked disorders. Genetic heterogeneity.

6. Inborn errors of metabolism. 1.71 CFU (12 hours)

Single-gene metabolic disorders. Bioenergetics and enzymatic catalysis. Measures of disease frequency: incidence and prevalence. Genetic disorders of carbohydrates, amino acids, and purine metabolism. The disorders of carbohydrate metabolism: von Gierke disease, Pompe disease, Cori disease, Andersen disease, McArdle disease, Hers disease, galactosemia type I, galactosemia type II, galactosemia type III, glucose-6-phosphate dehydrogenase deficiency). The disorders of amino acid metabolism: phenylketonuria, phenylketonuria type 2, and alkaptonuria. The disorders of purine metabolism: Lesch-Nyhan syndrome, Adenosine deaminase deficiency.

7. Hyperlipidemias. 0.57 CFU (4 hours)

Plasma lipid transport. Apolipoproteins. Chylomicrons. VLDL, IDL, and LDL. HDL. The Fredrickson classification of familial hyperlipidemias. Buerger-Gruetz syndrome or familial lipoprotein lipase 1 deficiency, familial hypercholesterolaemia, familial combined hyperlipidaemia, familial hypertriglyceridemia, and familial dysbetalipoproteinemia.

Bridging courses are not required. 

The student will demonstrate to have acquired the mastery of knowledge on metabolic diseases covered in the course (knowledge and understanding). The student will demonstrate to be able to elaborate independently the acquired notions to identify the molecular mechanisms responsible for the biochemical or metabolic diseases as well as their etiology (making judgments). The student will demonstrate the ability to integrate and update his knowledge using the main bioinformatics tools (applying knowledge and understanding). The student must also show the ability to clearly communicate the knowledge acquired (communication skills) and the logical conclusions arising from the study of the discipline (learning skills).

The teaching material prepared by the lecturer in addition to recommended textbooks (such as for instance slides, lecture notes, exercises, bibliography) and communications from the lecturer specific to the course can be found inside the Moodle platform › blended.uniurb.it

Anonymous self-assessment tests consist of closed-ended questions. The tests will be done during the lessons, correct in the classroom, and do not contribute to the final exam.

Teaching

Classroom lessons.

Attendance

Attendance is suggested. Basic knowledge of general biochemistry is required.

Course books

Suggested books:
DR Ferrier "Le basi della biochimica" 2015 Zanichelli;
DL Nelson, MM Cox "Introduzione alla biochimica di Lehninger" 2015 Zanichelli.

Assessment

Professor will verify learning outcomes through an oral examination; this assessment method is considered by the teacher the most suitable for evaluating the acquired knowledge and the student's ability to analyse concepts logically and critically. The oral examination will cover at least three topics discussed in the course; the first will be a metabolic disease addressed in the class. Particular emphasis will be given to the ability to exhibit the appropriate terminology and the logical capacities that will allow the student to argue in his way and in its entirety the subject matter of the examination application. The evaluation is expressed out of thirty. Its determination will take into account i) knowledge of the topics (knowledge and understanding), ii) mastery of a scientific language (communication skills), iii) reasoning ability (learning skills), iv) ability to link arguments (making judgments) and v) and autonomy to deepen the topics (applying knowledge and understanding). To determine the final vote will be taken into account the scheme reported in the link

Disability and Specific Learning Disorders (SLD)

Students who have registered their disability certification or SLD certification with the Inclusion and Right to Study Office can request to use conceptual maps (for keywords) during exams.

To this end, it is necessary to send the maps, two weeks before the exam date, to the course instructor, who will verify their compliance with the university guidelines and may request modifications.

Teaching

The student is asked to make a summary of the slides of each lesson.

Attendance

Attendance is not required. Basic knowledge of general biochemistry is required.

Course books

Suggested books:
DR Ferrier "Le basi della biochimica" 2015 Zanichelli;
DL Nelson, MM Cox "Introduzione alla biochimica di Lehninger" 2015 Zanichelli.

Assessment

Professor will verify learning outcomes through an oral examination; this assessment method is considered by the teacher the most suitable for evaluating the acquired knowledge and the student's ability to analyse concepts logically and critically. The oral examination will cover at least three topics discussed in the course; the first will be a metabolic disease addressed in the class. Particular emphasis will be given to the ability to exhibit the appropriate terminology and the logical capacities that will allow the student to argue in his way and in its entirety the subject matter of the examination application. The evaluation is expressed out of thirty. Its determination will take into account i) knowledge of the topics (knowledge and understanding), ii) mastery of a scientific language (communication skills), iii) reasoning ability (learning skills), iv) ability to link arguments (making judgments) and v) and autonomy to deepen the topics (applying knowledge and understanding). To determine the final vote will be taken into account the scheme reported in the link

Disability and Specific Learning Disorders (SLD)

Students who have registered their disability certification or SLD certification with the Inclusion and Right to Study Office can request to use conceptual maps (for keywords) during exams.

To this end, it is necessary to send the maps, two weeks before the exam date, to the course instructor, who will verify their compliance with the university guidelines and may request modifications.