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Laboratory Medicine - module of Clinical Biochemistry and Molecular Biology

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Clinical Biochemistry and Molecular Biology

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Academic year 2023/2024

Course ID
SCB0226A
Teacher
Guido Serini (Lecturer)
Year
5th year
Teaching period
Second semester
Credits/Recognition
1
Course disciplinary sector (SSD)
BIO/12 - clinical biochemistry and molecular biology
Delivery
Lecture
Language
English
Attendance
Mandatory
Type of learning unit
modulo
Modular course
Laboratory Medicine (SCB0226)
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Sommario del corso

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Program

  • Clinical biochemistry and molecular biology of dyslipidemias
  • Lipoproteins (classification and composition).
  • Apoproteins, Apolipoprotein B. 
  • mRNA Editing Catalytic Polypeptide-like (APOBEC) family. 
  • Intestinal absorption of cholesterol and phytosterols. 
  • Niemann-Pick C1-Like 1 (NPC1L1) transporter and ezetimibe. 
  • Clinically relevant ATP binding cassette (ABC) transporters in dyslipidemias.
  • ABCG5/G8 and sitosterolemia.
  • Secretion of complex lipids into the bile and their intestinal reabsorption.
  • Hormonal functions of bile acids.
  • CD36 transporter and the intestinal absorption of long-chain fatty acids.
  • Chylomicron assembly. 
  • Microsomal triglyceride transfer protein (MTP) and abetalipoproteinemia; Sar1 small GTPase and Anderson's disease. 
  • Lipoproteinlipase (LPL), apoprotein C2 (ApoC2), chylomicron/VLDL catabolism and hypertriglyceridemia. 
  • Hypertriglyceridemia and coronary atherosclerosis: the role of cholesteryl ester transfer protein (CETP)/ApoD, ApoA5, GPI-anchored HDL-binding protein 1 (GPIHBP1), angiopoietin-like (ANGPTL) 4, ANGPTL3/8, SVEP1/Polydom and ApoC3. 
  • Cholesterol homeostasis in liver and peripheral tissues: role of LXR/RXR, insulin induced gene (Insig) and Ubc7/gp78/VCP, sterol response element binding protein (SREBP) 2/SBREP cleavage activating protein (Scap) and miR-33a.
  • ApoB100, LDL receptor (LDLR) and familial hypercholesterolemia. 
  • Clathrin adapters and autosomal recessive hypercholesterolemia.
  • Regulation of LDLR degradation by proprotein convertase subtilisin-kexin type 9 (PCSK9) and therapeutic implications.
  • ApoE, dysbetalipoproteinemia and familial combined hyperlipidemia.
  • NPC1, NPC2 and type C/D Niemann-Pick disease.
  • Structure, function and role of HDLs in the control of lipid homeostasis. 
  • ABCA1, ABCG1, SR-BI, CETP/ApoD, APOA1 and atherosclerosis; 
  • Familial hyperalphalipoproteinemia; causes of HDL deficiency. 
  • Correlation between HDL cholesterol levels, cholesterol efflux capacity and atherosclerosis.
  • Greaves-Basedow's disease: thyroid stimulating hormone receptor (TSHR), anti-TSHR and anti-IGFR1 antibodies.
  • Basedowian ophthalmopathy: TSHR, fibrocytes, and interleukin-6. 
  • TSHR mutations and non-autoimmune hyperthyroidism.
  • Sodium/iodine symport (Solute Carrier 5A5, SLC5A5) and congenital hypothyroidism.
  • SLC26 and Pendred's syndrome.
  • The Wolff-Chaikoff effect.
  • SLC16A2 and Allan-Herndon-Dudley syndrome. 
  • Deiodinase and selenium.
  • Peripheral resistance to thyroid hormones.
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Learning assessment methods

The exam test covers all disciplines included in the course and the final score proportionally takes into account the results of each module. Partial scores are kept valid until the next exam.

EXAMINATION ARRANGEMENTS: written

  • MED/05 - Clinical pathology: 20 questions, brief open answers, 40 min time. No penalties for incorrect answers.
  • MED/07 - Clinical microbiology: 4 open questions (two brief and two broad), 40 min time. No penalties for incorrect answers.
  • BIO/12 - Clinical biochemistry: multiple-choice test. 16 questions. 20 min time. No penalties for incorrect answers.

Suggested readings and bibliography



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Notes

Students with DSA or disabilities are kindly requested to take note of the reception services and support services offered by the University of Turin, and in particular of the procedures required for exam support.

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