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Setting the stage for a role of the postsynaptic proteome in inherited neurometabolic disorders
Author(s) -
Bayés Àlex
Publication year - 2018
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/s10545-018-0240-x
Subject(s) - postsynaptic potential , neuroscience , proteome , neurotransmitter , biology , pathological , neurotransmission , neurotransmitter systems , bioinformatics , central nervous system , medicine , genetics , dopamine , receptor
Neurotransmitter diseases are a well‐defined group of metabolic conditions caused, in most instances, by genes specifically expressed in the presynaptic button. Better understanding of presynaptic molecular physiology, both in normal and pathological conditions, should help develop therapeutical strategies. The clinical relevance of the presynapse in inherited metabolic disorders is in glaring contrast with that of the postsynaptic component, which so far does not seem to play a relevant role in these disorders. This is somewhat surprising, as postsynaptic proteins are known to be involved in many nervous system diseases, particularly in neurodevelopmental and psychiatric disorders. The goal of this article is to explore if defects in the sophisticated postsynaptic machinery could also have a role in neurometabolic disorders.