Author/Editor | Jezernik, Kristijan | |
Title | Genetski vzroki spremenjene zgradbe migetalk pri človeku | |
Translated title | Genetically determined defects of cilia in man | |
Type | članek | |
Source | Med Razgl | |
Vol. and No. | Letnik 40, št. 1 | |
Publication year | 2001 | |
Volume | str. 75-82 | |
Language | slo | |
Abstract | Amongst the recently well known groups of human disorders is the ciliary motility syndrome. It is caused by genetically-determinated defects of cilia, consequently leading to impaired transport of mucus and inhaled particles from the nasal cavity and the lung. The dysfunction of mucociliary clearance leads to recurrent respiratory infection and to chronic obstructive pulmonary disease. Many different proteins are involved in the structure of cilia therefore primary ciliary dyskinesia is a group of heterogenous disorders of yet exactly unknown origin. Despite of it electron microscopy is in strict correlation to cilia ultrastructure and with the beating pattern. The following article is an overview of the recent knowledge in the field of cell biology and genetics. | |
Summary | Med v zadnjem času s stališča celične biologije in genetike bolje poznana obolenja človeka spada tudi sindrom migetalčne negibljivosti. Povzročen je z genetsko določenimi okvarami migetalk ter posledično z otežkočenim transportom sluzi ter inhaliranih snovi tako iz nosne votline kakor pljuč. Disfunkcija te primarne naloge migetalk je vzrok ponavljajočim se respiratornim okužbam ter kroničnim obstruktivnim pljučnim obolenjem. Ker je za abnormalno delovanje migetalk lahko krivec marsikatera spremenjena beljakovina, ki gradi migetalke, so primarni genetski vzroki omenjenih sprememb lahko raznoliki. Kljub nekaterim novim spoznanjem o soudeležbi konkretnih genov pri razvoju primarne ciliarne diskineze je elektronskomikroskopska analiza tkiv s prizadetimi migetalkami primerna metoda za potrditev pravilne diagnoze tovrstnih obolenj. V pričujočem članku podajam pregled ultrastrukturnih in funkcijskih sprememb humanih migetalk ter doslej poznane genetske osnove navedenih abnormalnosti. | |
Descriptors | CILIARY MOTILITY DISORDERS CILIA KARTAGENER'S SYNDROME |