
Familial dysautonomia (FD), a severe neuro-developmental and neurodegenerative genetic disorder, is caused by mutations of IKBKAP encoding a subunit of Elongator. FD patients have decreased expression of IKAP in a tissue-specific manner and consequently impaired Elongator function. The biological roles of human IKAP/Elongator remained elusive for a while. However, recent data based on the generation of cellular loss of function models of IKAP through RNA interference strongly suggest a role for this protein in transcriptional elongation. Other data also provide evidence for a role of Elongator in tRNA modifications. Importantly, cells depleted for IKAP have defects in cell motility because of impaired transcriptional elongation of some genes coding for proteins involved in cell migration. Therefore, cell motility deficiency seen in IKAP depleted cells may underlie the neuropathology of FD patients.
RNA, Transfer, Cell Movement, Mutation, Dysautonomia, Familial, Gene Expression, Humans, RNA, RNA Interference, Transcriptional Elongation Factors, Carrier Proteins
RNA, Transfer, Cell Movement, Mutation, Dysautonomia, Familial, Gene Expression, Humans, RNA, RNA Interference, Transcriptional Elongation Factors, Carrier Proteins
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