Author/Editor		Pungerčič, Galina
Title		Genetika Marfanovega sindroma
Translated title		The Marfan syndrome genetics
Type		članek
Source		Zdrav Vestn
Vol. and No.		Letnik 74, št. 5
Publication year		2005
Volume		str. 317-20
Language		slo
Abstract		Background. The Marfan syndrome is an autosomal dominant heritable disorder of connective tissue. It is caused by mutations in the fibrillin-1 gene encoding glycoprotein fibrillin-1, a component of microfibrils of extracellular matrix. Patients with Marfan syndrome show wide spectra of clinical signs, primarily on skeletal, cardiovascular and ocular organ systems. Cardiovascular complications (especially aortic aneurysm and aortic dissection) are the most common cause of mortality of Marfan syndrome patients. Discovering genotype-phenotype correlations is complicated because of the large number of mutations reported as well as clinical heterogeneity among individuals with the same mutation. Despite the progress in the knowledge of the molecular nature of Marfan syndrome the diagnosis is still based mainly on the clinical features in the different body systems. Conclusions. Early identification of patient with Marfan syndrome is of considerable importance because of appropriate treatment that can greatly improve life expectancy. Unfortunately, despite the improvement of diagnostic methods, medical and surgical therapy, the mortality due to undiagnosed Marfan syndrome is still high. The present article reviews the molecular genetic studies of Marfan syndrome since the discovery of the mutations in the fibrillin-1 gene.
Summary		Izhodišča. Marfanov sindrom (MFS) je dedna bolezen vezivnega tkiva, ki se deduje avtosomno dominantno. Povzročajo ga mutacije v genu za glikoprotein fibrilin-1, ki je sestavni del mikrofibrilov zunajceličnega matriksa. Bolniki z Marfanovim sindromom kažejo širok spekter kliničnih znakov. Najpogostejše so spremembe na skeletu, srčno-žilnem sisstemu in očeh. Srčno-žilne težave (predvsem anevrizma in disekcija aorte) so najpogostejši vzroki za zgodnjo smrtnost teh bolnikov. Odkrivanje povezanosti genotipa s fenotipom je zapleteno zaradi velikega števila mutacij in tudi zaradi heterogene klinične slike bolnikov z enako mutacijo. Zato je diagnosticiranje MFS kljub napredku v znanju o molekularni naravi Marfanovega sindroma še vedno skoraj izključno na podlagi kliničnih znakov v različnih delih telesa. Zaključki. Zgodnje odkrivanje bolnikov z MFS je pomembno zaradi pravočasnega zdravljenja, ki lahko znatno izboljša pričakovano trajanje življenja. Žal pa je kljub napredku v diagnostičnih metodah, medikamentnem in operativnem zdravljenju MFS smrtnost zaradi nepravočasno diagnosticirane bolezni še vedno visoka. Prispevek prikazuje pregled molekularnogenetskih študij MFS od odkritja sprememb v genu za fibrilin-1 do danes.
Descriptors		MARFAN SYNDROME EXTRACELLULAR MATRIX PROTEINS ELASTIC TISSUE COLLAGEN MUTATION