Skin Fibroblasts Shed Light on Therapeutics of Dementia

especially in the Finnish patients. There are no efficient therapies for FTD at present and the exact mechanism for FTD also remains hidden.

‘Skin fibroblasts from frontotemporal dementia patients may be useful in investigating underlying disease mechanisms as well as in biomarker and drug research.


The Molecular Findings

The study team thereby analyzed both the C9orf72 repeat expansion carriers and patients with sporadic FTD (unknown cause) to explore the molecular mechanisms of FTD.

It was found that the C9orf72 expansion in the skin fibroblasts of FTD patients was found to contain pathological RNA foci in the nuclei, which were derived from the expanded repeat sequence.


This suggests that skin fibroblasts of C9orf72 expansion carriers partially show similar pathological changes to those found in the FTD brain and thereby may possess potential to test for suitable drug compounds that could prevent the formation of the abnormal RNA foci and subsequent pathology.

The skin fibroblasts of both sporadic and C9orf72 expansion-carrying FTD patients also showed substantially more and larger p62 protein-containing vesicles than in the healthy control fibroblasts.

Accumulation of p62 could be a sign of the defective ability of the cells to degrade proteins. However, defects in the function of the main cellular protein degradation routes (proteasomes or autophagosomes) were not detected.


Apart from this the skin fibroblasts from these FTD patients also displayed a significantly weaker energy metabolism. This raises the possibility of p62 vesicles in skin fibroblasts along with defective energy metabolism to serve as disease biomarkers in the diagnostics of FTD.

“Because brain cells can rarely be obtained from the brains of living patients, other patient-derived cells, such as skin fibroblasts, are extremely useful in research. Their use enables clarifying disease mechanisms at the cellular and molecular level and may prove useful in biomarker or drug research, even at the individual level. In addition, patient-derived skin cells may be utilized as sources to produce induced pluripotent stem cells (iPSCs), which in turn can be further differentiated in the laboratory to different types of brain cells and used as human disease models in research,” says Research Director Annakaisa Haapasalo, in whose laboratory at the A.I. Virtanen Institute for Molecular Sciences at the University of Eastern Finland the study was conducted.

Source: Medindia


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