Genetik neurodegenerativer Erkrankungen

Zusammenfassung

Die Erforschung der genetischen Grundlagen seltener erblicher Formen neurodegenerativer Erkrankungen hat erheblich zum Verständnis der molekularen Mechanismen der Krankheitsentstehung beigetragen. Zahlreiche Gene wurden bereits identifiziert und ihre Funktion und die mutationsbedingten Funktionsstörungen wurden in den verschiedensten Tier- und Zellmodellen untersucht und charakterisiert. In vielen Fällen konnten so Klassifikationen geschaffen werden, welche die herkömmlichen Krankheitsnosologien nach klinischen und pathologischen Kriterien ergänzen. Neue Hochdurchsatzmethoden der Genotypisierung und Gensequenzierung haben es in den letzten Jahren auch ermöglicht, die genetischen Grundlagen der sehr viel häufigeren sporadischen Erkrankungsformen ins Visier zu nehmen. Auch wenn diese Untersuchungen noch am Anfang stehen, so besteht doch die berechtigte Hoffnung, dass sie letztlich dazu führen werden, neue diagnostische und therapeutische Zugänge zu entwickeln, die eine gezieltere Behandlung im Sinne einer stratifizierten oder vielleicht sogar personalisierten Medizin ermöglichen.

Abstract

Research on the genetic basis of rare hereditary forms of neurodegenerative diseases has made a significant contribution to the understanding of the underlying molecular mechanisms of pathogenesis. Numerous genes have been identified and their functions and mutation-caused dysfunctions have been analyzed and characterized in a broad range of animal and cell models. In many cases, classifications could be established, which add clinical and pathological criteria to conventional disease nosologies. New high-throughput genotyping and gene-sequencing methods have made it possible in recent years to look more closely at the genetic basis of the much more common sporadic disease forms. Although this research is still in its early stages, there is a justified hope that it will ultimately lead to the development of new diagnostic and therapeutic approaches, which will enable targeted treatment in the sense of stratified or even personalized medicine.

Schlüsselwörter

Alzheimer-Demenz - Parkinson-Erkrankung - Amyotrophe Lateralsklerose - Genetik - Sequenzierung der nächsten Generation

Keywords

Alzheimer’s Disease - Parkinson’s Disease - Amyotrophic Lateral Sclerosis - Genetics - Next Generation Sequencing

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