Results: 4

1.
Fig. 1.

Fig. 1. From: Mutant mitochondrial helicase Twinkle causes multiple mtDNA deletions and a late-onset mitochondrial disease in mice.

Transgene expression levels in the muscle, heart, and brain of the three transgenic Twinkledup (C, D, and F) and two TwinkleAT (G, H) mouse lines. The transgene expression levels were correlated with the expression of the native Twinkle gene.

Henna Tyynismaa, et al. Proc Natl Acad Sci U S A. 2005 December 6;102(49):17687-17692.
2.
Fig. 4.

Fig. 4. From: Mutant mitochondrial helicase Twinkle causes multiple mtDNA deletions and a late-onset mitochondrial disease in mice.

mtDNA deletions of the muscle and brain of the Twinkledup mouse, determined by long PCR, cloning, and DNA sequencing. (a) Schematic diagram of mouse mtDNA showing the deleted segment in gray (see supporting information for details). Only the D-loop, 12S rRNA, and 16S rRNA were commonly spared. (b) Schematic presentation of the mouse and human mtDNA region harboring the 5′ deletion breakpoints. Black vertical lines show the 5′ deletion breakpoints identified in this study, and the asterisks below indicate how often the same 5′ breakpoint was found from dissimilar deletion molecules. The common 5′deletion breakpoint of human multiple mtDNA deletions (16070) is indicated.

Henna Tyynismaa, et al. Proc Natl Acad Sci U S A. 2005 December 6;102(49):17687-17692.
3.
Fig. 3.

Fig. 3. From: Mutant mitochondrial helicase Twinkle causes multiple mtDNA deletions and a late-onset mitochondrial disease in mice.

Mitochondrial DNA analysis and copy number determination. (a and c) Southern blots of muscle and brain DNA of 22-month-old control, TwinkleWT+ mice, and Twinkledup F1 mouse and an 18-month-old Twinkledup F2 mice probed with mtDNA, and nuclear 18S rRNA gene. (b) Quantitation of brain mtDNA copy number of the mice against the nuclear 18S rRNA gene. (d) Overexposed Southern blot of muscle DNA shown in c. The 3-kb band found from Twinkledup mice is pointed by the arrow. (e) Long PCR of muscle and brain DNA of the same mice. The full-length mtDNA is indicated by the thin arrow and the most prevalent deletion molecule size of muscle mtDNA (≈3 kb) by the thick arrow.

Henna Tyynismaa, et al. Proc Natl Acad Sci U S A. 2005 December 6;102(49):17687-17692.
4.
Fig. 2.

Fig. 2. From: Mutant mitochondrial helicase Twinkle causes multiple mtDNA deletions and a late-onset mitochondrial disease in mice.

Cytochrome c oxidase activity of muscle and brain and the skeletal muscle ultrastructure. Double staining for COX/SDH activities of the quadriceps femoris of 12-month-old control (a) and Twinkledup mouse (b), the quadriceps femoris of 18-month-old control (c) and Twinkledup (d) mouse, cerebellum of 18-month-old control (e) and Twinkledup (f) mouse, choroid plexus of 18-month-old control (g) and Twinkledup (h) mouse, and indusium griseum of 18-month-old control (i) and Twinkledup (j) mouse (cc, corpus callosum). The arrows point to the affected cells of the transgenic mice. (k and l) Electron micrographs of ultrathin section of the quadriceps femoris of an 18-month-old Twinkledup mouse. (k) Normal-sized mitochondrion is pointed out by the arrow in the normal fiber (nf) and an enlarged mitochondrion in the fiber with subsarcolemmal accumulation of mitochondria (sa). In the diseased fiber (df), muscle fibrils have been replaced by abnormal large mitochondria with inclusions, peripheral cristae, and vacuoles. (l) The autophagosomes with mitochondria found from the diseased fibers are shown by arrows. (Scale bars: 25 μm, a–h; 100 μm, i and j; 1 μm, k; 200 nm, l.)

Henna Tyynismaa, et al. Proc Natl Acad Sci U S A. 2005 December 6;102(49):17687-17692.

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