Premium
Batten disease fibroblasts in culture accumulate mitochondrial ATP synthase subunit 9.
Author(s) -
Tanner Allison,
Dice J. Fred
Publication year - 1995
Publication title -
cell biology international
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.932
H-Index - 77
eISSN - 1095-8355
pISSN - 1065-6995
DOI - 10.1006/cbir.1995.1010
Subject(s) - atp synthase , protein subunit , batten disease , fibroblast , mitochondrion , biology , microbiology and biotechnology , cell culture , enzyme , biochemistry , gene , genetics
Batten Disease is a lysosomal storage disease in which the major component that accumulates is subunit 9 of mitochondrial ATP synthase. Whether or not fibroblasts in culture exhibit this phenotype is controversial. We show that fibroblasts from a human Batten Disease patient and from a mouse model of this disease exhibit autofluorescent inclusion bodies. We also demonstrate that levels of ATP synthase subunit 9 are elevated in these diseased fibroblasts when compared to control cells. However, the exact growth state of the human fibroblasts was critical, and this factor probably accounts for discrepencies in the literature.