The process of inducing GFAP aggregates in astrocytoma-derived cells is different between R239C and R416W mutant GFAP. A time-lapse recording study.

[alexander disease]

Alexander disease (ALX ) is a rare neurodegenerative disease caused by the gene mutations encoding glial fibrillary acidic protein (GFAP ). The formation of aggregates in the cytoplasm of astrocytes , which mainly consists of GFAP , is characteristic of ALX . To examine the dynamic process of aggregates between the different domains of GFAP , we performed time-lapse recording on two different mutant GFAP . R 239 C and R 416 W GFAP mutations located in the rod domain and tail domain , respectively , were transfected into astrocytoma -derived cells , and their real-time dynamics were observed using time-lapse recording . Our time-lapse recording study indicated that the process of inducing aggregates would be different between R 239 C and R 416 W . In GFP-R 239 C cells , 32 .4 % first appeared as aggregates , and clusters of aggregates in the cytoplasm tended to move inward and form amorphous aggregates . On the other hand , 82 .0 % of GFP-R 416 W cells first showed disrupted GFAP , with a bubble-like or ring-like structure ; however , most cells maintained their structure and were capable of cell division . Our result indicates that the mechanism of GFAP aggregation depends on the domain in which the point mutation is located . A different approach to ALX therapy should be considered according to the domain of GFAP .

Diseases
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Diseases presenting "the gene mutations encoding glial fibrillary acidic protein" symptom

alexander disease

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