Verifikacija metode za određivanje homocisteina iz suhe kapi krvi na filtarskom papiru primjenom tehnologije tandemske spektrometrije masa

master's thesis

• Title (english): Verification of a method for homocysteine analysis in dried blood spots using tandem mass spectroscopy
• Author: Petra Andrašić
• Mentor: Ksenija Fumić (mentor)
• Committee member: Ksenija Fumić (predsjednik povjerenstva)
• Committee member: Željka Vogrinc (član povjerenstva)
• Committee member: Desiree Coen Herak (član povjerenstva)
• Granter: University of Zagreb; Faculty of Pharmacy and Biochemistry; Zagreb
• Defense date and country: 2022-09-29, Croatia
• Scientific / art field, discipline and subdiscipline: BIOMEDICINE AND HEALTHCARE; Pharmacy; Medical Biochemistry

Abstract

Homocistein je aminokiselina koja u organizmu nastaje isključivo u metioninskom ciklusu. Povišena koncentracija homocisteina u krvi naziva se hiperhomocisteinemija, a povezuje se uz mnoga stanja uključujući kardiovaskularne i neurodegenerativne bolesti, komplikacije u trudnoći, maligne bolesti i dijabetes. Ipak, hiperhomocisteinemija najčešće se očituje kod nasljednih metaboličkih poremećaja poput klasične homocistinurije gdje je uslijed mutacije prisutan manjak ili potpuna odsutnost enzima uključenih u metioninski ciklus. Homocistein se do sada određivao iz uzorka plazme, međutim uzorak suhe kapi krvi bitno je praktičniji za rutinsko određivanje, a pokazala se i potreba za mjerenjem homocisteina u drugostupanjskim testovima novorođenačkog probira. Provedbom kratke analitičke validacije zaključeno je da je metoda određivanja homocisteina iz uzorka suhe kapi krvi tandemskom spektrometrijom masa primjenjiva za rutinski rad.

Abstract (english)

Homocysteine is an amino acid that is formed only during the methionine cycle in the human body. An elevated concentration of homocysteine in the blood is called hyperhomocysteinemia, and it is associated with many conditions, including cardiovascular and neurodegenerative diseases, complications in pregnancy, malignancies, and diabetes. However, hyperhomocysteinemia is most often manifested in hereditary metabolic disorders such as classical homocystinuria. Due to the mutation, there is a deficiency or complete absence of enzymes involved in the methionine cycle. Up to now, homocysteine has been determined from a plasma sample, but a dry blood spot is significantly more practical for routine determination. Also, there is a need for measuring homocysteine in secondary newborn screening tests. During the short analytical validation, it was concluded that the method of determining homocysteine from dried blood spots by tandem mass spectrometry is applicable for routine work.

• Keywords: homocistein; poremećaji metioninskog ciklusa; suha kap krvi; verifikacija; tandemska spektrometrija masa
• Keywords (english): homocysteine; disorders of methionine metabolism; dried blood spot; verification; tandem mass spectrometry
• Language: croatian
• URN:NBN: urn:nbn:hr:163:158988
• Study programme: Title: Medical biochemistry; Study programme type: university; Study level: integrated undergraduate and graduate; Academic / professional title: magistar/magistra medicinske biokemije (magistar/magistra medicinske biokemije)
• Type of resource: Text
• File origin: Born digital
• Access conditions: Open access
• Created on: 2022-10-14 14:46:18