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

Overview

Journal Neuromolecular Med

Specialty Biochemistry

Date 2007 Nov 7

PMID 17985250

Citations 18

Authors

Berish Y Rubin

Sylvia L Anderson

Affiliations

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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 manifestations 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.

Citing Articles

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Cardiovascular Autonomic Neuropathy and its Association with Cardiovascular and All-cause Mortality in Patients with End-stage Renal Disease.

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Genomics of Cardiovascular Measures of Autonomic Tone.

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gene mutations: mechanisms of familial dysautonomia and gene-targeting therapies.

Rubin B, Anderson S Appl Clin Genet. 2018; 10:95-103.

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