scholarly journals Widespread severe myodegeneration in a compound heterozygote female dog with dystrophin deficiency

2021 ◽  
Author(s):  
Jessica S. Fortin ◽  
Chady H. Hakim ◽  
Scott Korte ◽  
N. Nora Yang ◽  
Scott D. Fitzgerald ◽  
...  
Keyword(s):  
Compound Heterozygote ◽  
Dystrophin Deficiency

scholarly journals Autophagy in the heart is enhanced and independent of disease progression in mus musculus dystrophinopathy models

2019 ◽  
Vol 8 ◽  
pp. 204800401987958
Author(s):  
HR Spaulding ◽  
C Ballmann ◽  
JC Quindry ◽  
MB Hudson ◽  
JT Selsby
Keyword(s):  
Skeletal Muscle ◽  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Disease Progression ◽  
Gene Mutations ◽  
Dystrophin Gene ◽  
Mdx Mice ◽  
Dystrophin Deficiency ◽  
Muscle Wasting Disease ◽  
Dystrophin Protein

Background Duchenne muscular dystrophy is a muscle wasting disease caused by dystrophin gene mutations resulting in dysfunctional dystrophin protein. Autophagy, a proteolytic process, is impaired in dystrophic skeletal muscle though little is known about the effect of dystrophin deficiency on autophagy in cardiac muscle. We hypothesized that with disease progression autophagy would become increasingly dysfunctional based upon indirect autophagic markers. Methods Markers of autophagy were measured by western blot in 7-week-old and 17-month-old control (C57) and dystrophic (mdx) hearts. Results Counter to our hypothesis, markers of autophagy were similar between groups. Given these surprising results, two independent experiments were conducted using 14-month-old mdx mice or 10-month-old mdx/Utrn± mice, a more severe model of Duchenne muscular dystrophy. Data from these animals suggest increased autophagosome degradation. Conclusion Together these data suggest that autophagy is not impaired in the dystrophic myocardium as it is in dystrophic skeletal muscle and that disease progression and related injury is independent of autophagic dysfunction.

scholarly journals Atypical juvenile presentation of G M2 gangliosidosis AB in a patient compound-heterozygote for c.259G > T and c.164C > T mutations in the GM2A gene

2017 ◽  
Vol 11 ◽  
pp. 24-29 ◽  
Author(s):  
Carla Martins ◽  
Catherine Brunel-Guitton ◽  
Anne Lortie ◽  
France Gauvin ◽  
Carlos R. Morales ◽  
...  
Keyword(s):  
Compound Heterozygote

scholarly journals Dystrophin-deficiency increases the susceptibility to doxorubicin-induced cardiotoxicity

2007 ◽  
Vol 9 (10) ◽  
pp. 986-994 ◽  
Author(s):  
Shiwei Deng ◽  
Bettina Kulle ◽  
Mehdi Hosseini ◽  
Gregor Schlüter ◽  
Gerd Hasenfuss ◽  
...  
Keyword(s):  
Dystrophin Deficiency

scholarly journals Evidence for Two Regions in the Mouse t Complex Controlling Transmission Ratios

1981 ◽  
Vol 38 (3) ◽  
pp. 315-325 ◽  
Author(s):  
Józefa Styrna ◽  
Jan Klein
Keyword(s):  
Lethal Factor ◽  
Compound Heterozygote ◽  
The Other ◽  
Transmission Ratio ◽  
Crossing Over ◽  
Normal Length ◽  
T Complex ◽  
Segregation Distorter ◽  
Haplotype A ◽  
Made In

SUMMARYFour new t haplotypes, tTu1 through tTu4, are described, three of them derived from the tw12tf haplotype and one (tTu4) from the tw2 haplotype. The tTu1 and tTu4 haplotypes cause taillessness in T/tTu1 or T/tTu4 heterozygotes, lack the lethality factor, weakly suppress recombination in the T−H−2 interval, and are transmitted to offspring from tTu/ + males at nearly Mendelian ratios. The tTu3 haplotype resembles tTu1 and tTu4 except for the fact that the T/tTu3 heterozygotes have normal-length tails. The tTu2 haplotype probably carries the lethal factor of tTu12tf, suppresses crossing-over in the T-H-2 and tf-H-2 intervals, and displays a slightly subnormal transmission ratio. In the compound heterozygote tTu1/tTu2, the male transmission ratio of the tTu1 chromosome is close to that of the original tTu12tf haplotype. A similar effect is observed in the tTu3/tTu2 heterozygote. This observation is interpreted as evidence for two regions within the t complex controlling the male transmission ratios. One of the regions is close to the tail-modifying region, the other is close to the lethality factor. Our findings parallel closely those made in the segregation distorter system in Drosophila.

scholarly journals Mitral valve reconstruction in a compound heterozygote for sickle cell anemia and hemoglobin Lepore

2005 ◽  
Vol 130 (3) ◽  
pp. 932-933 ◽  
Author(s):  
Konstantinos Tziomalos ◽  
Vassilia Garipidou ◽  
Eleni Houmpouridou ◽  
Antonios A. Pitsis ◽  
Elias Basayannis
Keyword(s):  
Mitral Valve ◽  
Sickle Cell ◽  
Sickle Cell Anemia ◽  
Compound Heterozygote ◽  
Mitral Valve Reconstruction ◽  
Valve Reconstruction
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