Avtor/Urednik		Milisav, Irina
Naslov		Mitohondrijske bolezni
Prevedeni naslov		Mitohondrial diseases
Tip		članek
Vir		Zdrav Vestn
Vol. in št.		Letnik 70, št. 4
Leto izdaje		2001
Obseg		str. 227-31
Jezik		slo
Abstrakt		Background. Recent discoveries that mitochondria are involved in various diseases, ageing processes and have a central role in triggering and executing cell death have attracted the interest for these cellular organelles. Conclusions. Mitochondrial diseases arise as a consequence of lower energy production and are often the result of singlenucleotide errors, which lead to defects only later in life. The characteristic features are varied simptoms and complex inheritance patterns, since the diseases aries as a consequence of mutations in the mitochondrial or nuclear genes. Mitochondrial disorders are often expressed as neurodegenerative diseases, myopaties or endocrine system dysfunctions as well as in the processes of ageing.
Izvleček		Izhodišča. V zadnjem času se je povečalo zanimanje za delovanje mitohondrijev zaradi dokazane vpletenosti teh organelov pri različnih boleznih, procesih staranja in zaradi njihove centralne vloge pri določanju in izvedbi celične smrti. Zaključki. Mitohondrijske bolezni so posledica majhnih, pogosto maloštevilnih okvar, ki se z leti vse bolj izrazijo. Posledica okvar je zmanjšana tvorba energije, na kar so organi v različno občutljivi. Značilna je raznolikost simptomov in kompleksno delovanjje, saj so okvare posledica mutacij jedrnih ali mitohondrijskih genov. Tako se mitohondrijske okvare najpogosteje kažejo kot nevrodegenerativne bolezni in staranje.
Deskriptorji		MITOCHONDRIA DNA, MITOCHONDRIAL GENETIC SCREENING CELL DEATH AGING