Original Paper

NeuroMolecular Medicine

, Volume 10, Issue 3, pp 148-156

First online:

The Molecular Basis of Familial Dysautonomia: Overview, New Discoveries and Implications for Directed Therapies

  • Berish Y. RubinAffiliated withDepartment of Biological Sciences, Laboratory for Familial Dysautonomia Research, Fordham University Email author 
  • , Sylvia L. AndersonAffiliated withDepartment of Biological Sciences, Laboratory for Familial Dysautonomia Research, Fordham University

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Abstract

Familial dysautonomia (FD) is a sensory and autonomic neuropathy that affects the development and survival of sensory, sympathetic, and some parasympathetic neurons. It is autosomally inherited and occurs almost exclusively among individuals of Ashkenazi Jewish descent. The pathological and clinical manisfestations of FD have been extensively studied and therapeutic modalities have, until recently, focused primarily on addressing the symptoms experienced by those with this fatal disorder. The primary FD-causing mutation is an intronic nucleotide substitution that alters the splicing of the IKBKAP-derived transcript. Recent efforts have resulted in the development of new therapeutic modalities that facilitate the increased production of the correctly spliced transcript and mitigate the symptoms of those with FD. Furthermore, the recent demonstration of the reduced presence of monoamine oxidase A in cells and tissues of individuals with FD has provided new insight into the cause of hypertensive crises experienced by these patients.

Keywords

Autonomic nervous system Familial dysautonomia IKAP IKBKAP Monoamine oxidase RNA splicing