The course will focus on the study of 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. 2 CFU (14 hours)

Genome packaging in eukaryotes. The modification of nucleosomes. Satellite DNA. Alphoid probes. The centromere. Eukaryotic chromosome structure. Transposons. Barbara McClintock's controlling elements. Retrotransposons. LINEs and SINEs repeats. 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 that cause inherited metabolic diseases. 0.57 CFU (4 hours)

The molecular basis of mutations. Point mutations. Replication slippage. Chromosomal mutations. Hemoglobinopathies and Thalassemias. Karyotype aberrations.

4.  Genetics of metabolic disorders. 1 CFU (7 hours)

Inheritance of monogenic diseases. 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.

5.  Genome typing. 1 CFU (7 hours)

Simple sequence length polymorphism. Minisatellites. Paternity test. Microsatellites. Short tandem repeats (STRs) and genetic fingerprinting. The CODIS database. Single nucleotide polymorphisms (SNPs). RFLP techniques. Next-generation sequencing. dbSNP database. SNPs and Alzheimer's disease.

6.   Inborn errors of metabolism. 2 CFU (14 hours)

Single-gene metabolic disorders. 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, 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. Familial hypercholesterolemia, familial dysbetalipoproteinemia, and lipoprotein lipase deficiency.

8.   Hyperglycemia. 0.57 CFU (4 hours)

Maintenance of blood glucose homeostasis. Role of insulin: biosynthesis and mechanisms of action. Glucagon's functions. Adrenaline and cortisol. Type 1 diabetes and metabolic implications. Type 2 diabetes and insulin resistance.

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 consisting of closed-ended questions. The tests will be done during the lessons and will not be evaluated for the final exam.

Teaching

Classroom lessons.

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

Disabilità e DSA

Le studentesse e gli studenti che hanno registrato la certificazione di disabilità o la certificazione di DSA presso l'Ufficio Inclusione e diritto allo studio, possono chiedere di utilizzare le mappe concettuali (per parole chiave) durante la prova di esame.

A tal fine, è necessario inviare le mappe, due settimane prima dell’appello di esame, alla o al docente del corso, che ne verificherà la coerenza con le indicazioni delle linee guida di ateneo e potrà chiederne la modifica.

Teaching

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

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

Disabilità e DSA

Le studentesse e gli studenti che hanno registrato la certificazione di disabilità o la certificazione di DSA presso l'Ufficio Inclusione e diritto allo studio, possono chiedere di utilizzare le mappe concettuali (per parole chiave) durante la prova di esame.

A tal fine, è necessario inviare le mappe, due settimane prima dell’appello di esame, alla o al docente del corso, che ne verificherà la coerenza con le indicazioni delle linee guida di ateneo e potrà chiederne la modifica.