Bovine ceroid-lipofuscinosis (Batten's disease): The major component stored is the DCCD-reactive proteolipid, subunit c, of mitochondrial ATP synthase

1991 ◽  
Vol 15 (2) ◽  
pp. 85-94 ◽  
Author(s):  
R. D. Martinus ◽  
P. A. W. Harper ◽  
R. D. Jolly ◽  
S. L. Bayliss ◽  
G. G. Midwinter ◽  
...  
Keyword(s):  
Atp Synthase ◽  
Subunit C ◽  
Ceroid Lipofuscinosis ◽  
Mitochondrial Atp Synthase ◽  
Batten's Disease

scholarly journals Lysosomal storage of subunit c of mitochondrial ATP synthase in Batten's disease (ceroid-lipofuscinosis)

1991 ◽  
Vol 275 (1) ◽  
pp. 269-272 ◽  
Author(s):  
N A Hall ◽  
B D Lake ◽  
N N Dewji ◽  
A D Patrick
Keyword(s):  
Atp Synthase ◽  
Lysosomal Storage ◽  
Infantile Form ◽  
Subunit C ◽  
Ceroid Lipofuscinosis ◽  
Mitochondrial Atp Synthase ◽  
Batten's Disease ◽  
Defective Metabolism

Immunochemical studies demonstrate that subunit c of mitochondrial ATP synthase is stored in the late-infantile, juvenile and adult forms of Batten's disease. It does not accumulate in the infantile form, or in other conditions involving lysosomal hypertrophy. These results suggest that the defective metabolism of subunit c is central to the pathogenesis of these three forms of Batten's disease.

scholarly journals Lysine methylation of mitochondrial ATP synthase subunit c stored in tissues of dogs with hereditary ceroid lipofuscinosis

1994 ◽  
Vol 269 (13) ◽  
pp. 9906-9911
Author(s):  
M.L. Katz ◽  
J.S. Christianson ◽  
N.E. Norbury ◽  
C.L. Gao ◽  
A.N. Siakotos ◽  
...  
Keyword(s):  
Atp Synthase ◽  
Lysine Methylation ◽  
Subunit C ◽  
Ceroid Lipofuscinosis ◽  
Mitochondrial Atp Synthase

scholarly journals Characterization of the expressed genes for subunit c of mitochondrial ATP synthase in sheep with ceroid lipofuscinosis

1993 ◽  
Vol 293 (1) ◽  
pp. 65-73 ◽  
Author(s):  
S M Medd ◽  
J E Walker ◽  
R D Jolly
Keyword(s):  
Atp Synthase ◽  
Mitochondrial Targeting ◽  
Mitochondrial Import ◽  
Fragment Analysis ◽  
Subunit C ◽  
Ceroid Lipofuscinosis ◽  
Mitochondrial Atp Synthase ◽  
C Subunit ◽  
Healthy Control

The human and bovine genomes each contain two expressed nuclear genes, called P1 and P2, for subunit c, a hydrophobic subunit of the membrane sector, Fo, of mitochondrial ATP synthase. Both P1 and P2 encode the same mature protein, but the associated mitochondrial import sequences are different. In sheep with the neurodegenerative disease ceroid lipofuscinosis, and also in humans with Batten's disease, unmodified subunit c accumulates in lysosome-derived organelles in a variety of tissues. However, the sequences of cDNAs for P1 and P2 from sheep with ceroid lipofuscinosis were identical to those in healthy control animals. Therefore, since there was no mutation in either of the mitochondrial import sequences of subunit c in the diseased animals, ceroid lipofuscinosis does not arise from changes in an import sequence causing mis-targeting of the c subunit to lysosomes. The levels of expression of P1 and P2 genes were approximately the same in diseased and healthy animals, and so the protein is unlikely to accumulate because of excessive transcription of either gene. Transcription of a spliced pseudogene related to P2 was detected in both a control animal and a sheep with ceroid lipofuscinosis. The transcripts encode amino acids 1-31 of the P2 mitochondrial targeting sequence. In the diseased animal, an arginine replaced a glutamine in the control sequence. However, restriction fragment analysis of genomic DNA from a further 12 sheep established that the sequence differences were not linked to ceroid lipofuscinosis.

Accumulation of mitochondrial ATP synthase subunit c in muscle in a patient with neuronal ceroid lipofuscinosis (late infantile form)

1997 ◽  
Vol 93 (6) ◽  
pp. 628-632 ◽  
Author(s):  
F. Umehara ◽  
Itsuro Higuchi ◽  
Kenji Tanaka ◽  
Takahito Niiyama ◽  
Junji Ezaki ◽  
...  
Keyword(s):  
Atp Synthase ◽  
Neuronal Ceroid Lipofuscinosis ◽  
Infantile Form ◽  
Subunit C ◽  
Ceroid Lipofuscinosis ◽  
Mitochondrial Atp Synthase
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