Νέες μοριακές διαγνωστικές μέθοδοι και βιοδείκτες για την Πλάγια Μυατροφική Σκλήρυνση (ALS)
Keywords:
Πλάγια μυατροφική σκλήρυνση, γονιδιωματικοί βιοδείκτες, βιοδείκτες λιπιδίων
Abstract
Η πλάγια μυατροφική σκλήρυνση ή αλλιώς νόσος του κινητικού νευρώνα (ALS) είναι μια σπάνια διαταραχή η οποία κατατάσσεται σε δύο μορφές: την οικογενή, με ποσοστό 5-10 % των περιπτώσεων, και την σποραδική. Αξίζει να σημειωθεί η κρισιμότητα της έγκαιρης διάγνωση της για την αποτελεσματικότητα της θεραπείας, η οποία βασίζεται σε μια κλινική αξιολόγηση που απαιτεί περίπου 12 μήνες. Συνέπεια αυτού αποτελεί η καθυστερημένη χορήγηση των κατάλληλων φαρμάκων, με αποτέλεσμα, νέες μέθοδοι για την διάγνωση της ALS να κρίνονται αναγκαίες. O έλεγχος παθογόνων γονίδιων που σχετίζονται με την ALS, αποτελεί ήδη διαγνωστικό εργαλείο. Ωστόσο, δεν μπορεί να χρησιμοποιηθεί σε προσυμπτωματικό στάδιο. Επομένως απαιτούνται νέοι βιοδείκτες οι οποίοι θα ευνοήσουν την έγκαιρη ανίχνευση. Συγκεκριμένα, τα λιπίδια εμφανίζονται ως πολλά υποσχόμενοι βιοδείκτες για τον πληθυσμιακό έλεγχο και για την παρακολούθηση της εξέλιξης της νόσου. Επιπλέον, η γενετική ανάλυση μπορεί να βοηθήσει στην πρόβλεψη της εξέλιξης της νόσου μέσω της ανάλυσης γονιδίων που την τροποποιούν όπως, το EPHA4 και το CHGB. Στο παρόν κείμενο αναλύονται νέες τεχνικές οι οποίες είναι δυνατό να εφαρμοστούν για την διάγνωση της ALS.
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