The Experts below are selected from a list of 2127 Experts worldwide ranked by ideXlab platform
M G Hanna - One of the best experts on this subject based on the ideXlab platform.
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Zebra Body myopathy is caused by a mutation in the skeletal muscle actin gene acta1
Neuromuscular Disorders, 2015Co-Authors: C Sewry, Janice L Holton, David Dick, F Muntoni, M G HannaAbstract:Abstract We present follow up data on the original case of ‘Zebra Body myopathy' published by Lake and Wilson in 1975. Pathological features in a second biopsy performed at the age of 29 years included a wide variation in fibre size, multiple split fibres, excess internal nuclei and endomysial connective tissue, rimmed vacuoles, accumulation of myofibrillar material and large ‘wiped out' areas lacking stain for oxidative enzymes. The presence of nemaline rods and actin-like filaments in addition to small Zebra bodies suggested ACTA1 as a candidate gene. This has been confirmed by the identification of a novel c.1043T.p.Leu348Gln mutation, which probably occurred de novo . This case illustrates that the myopathy associated with Zebra bodies is part of the spectrum of myopathies associated with the ACTA1 gene. It also highlights that accumulation of actin filaments is not confined to severe neonatal ACTA1 cases and that progression of weakness can occur in congenital myopathies, as the patient is now wheelchair bound and can only stand with the aid of a walking frame.
Yuichirou Kiko - One of the best experts on this subject based on the ideXlab platform.
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familial hypertrophic obstructive cardiomyopathy with the gla e66q mutation and Zebra Body
BMC Cardiovascular Disorders, 2016Co-Authors: Masayoshi Oikawa, Nobuo Sakamoto, Atsushi Kobayashi, Satoshi Suzuki, Akiomi Yoshihisa, Takayoshi Yamaki, Kazuhiko Nakazato, Hitoshi Suzuki, Shuichi Saitoh, Yuichirou KikoAbstract:Fabry disease is caused by mutations in the α-galactosidase A (GLA) gene, which is located in X-chromosome coding for the lysosomal enzyme of GLA. Among many gene mutations, E66Q mutation is under discussion for its pathogenicity because there is no clinical report showing pathological evidence of Fabry disease with E66Q mutation. A 65-year-old Japanese female was referred to our hospital for chest discomfort on effort. Transthoracic echocardiography showed severe left ventricular (LV) hypertrophy with LV outflow obstruction. Maximum LV outflow pressure gradient was 87 mmHg, and Valsalva maneuver increased the pressure gradient up to 98 mmHg. According to medical interview, one of her younger sister and a nephew died suddenly at age 42 and 36, respectively. Another younger sister also presented LV hypertrophy with outflow obstruction. Maximum LV outflow pressure gradient was 100 mmHg, and the E66Q mutation was detected similar to the case. Endomyocardial biopsy specimens presented vacuolation of cardiomyocytes, in which Zebra bodies were detected by electron microscopic examination. Although the enzymatic activity of GLA was within normal range, the c. 196G>C nucleotide change, which lead to the E66Q mutation of GLA gene, was detected. We initially diagnosed her as cardiac Fabry disease based on the findings of Zebra Body. However, immunostaining showed few deposition of globotriaosylceramide in left ventricular myocardium, and gene mutations in the disease genes for hypertrophic cardiomyopathy (HCM), MYBPC3 and MYH6, were detected. Although the pathogenicity of the E66Q mutation cannot be ruled out, hypertrophic obstructive cardiomyopathy (HOCM) was more reasonable to explain the pathophysiology in the case. This is the confusable case of HOCM with Fabry disease with the GLA E66Q mutation. We have to take into consideration the possibility that some patients with the E66Q mutation may have similar histological findings of Fabry disease, and should be examed the possibility for harboring gene mutations associated with HCM.
C Sewry - One of the best experts on this subject based on the ideXlab platform.
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Zebra Body myopathy is caused by a mutation in the skeletal muscle actin gene acta1
Neuromuscular Disorders, 2015Co-Authors: C Sewry, Janice L Holton, David Dick, F Muntoni, M G HannaAbstract:Abstract We present follow up data on the original case of ‘Zebra Body myopathy' published by Lake and Wilson in 1975. Pathological features in a second biopsy performed at the age of 29 years included a wide variation in fibre size, multiple split fibres, excess internal nuclei and endomysial connective tissue, rimmed vacuoles, accumulation of myofibrillar material and large ‘wiped out' areas lacking stain for oxidative enzymes. The presence of nemaline rods and actin-like filaments in addition to small Zebra bodies suggested ACTA1 as a candidate gene. This has been confirmed by the identification of a novel c.1043T.p.Leu348Gln mutation, which probably occurred de novo . This case illustrates that the myopathy associated with Zebra bodies is part of the spectrum of myopathies associated with the ACTA1 gene. It also highlights that accumulation of actin filaments is not confined to severe neonatal ACTA1 cases and that progression of weakness can occur in congenital myopathies, as the patient is now wheelchair bound and can only stand with the aid of a walking frame.
Susanne Åkesson - One of the best experts on this subject based on the ideXlab platform.
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Experimental evidence that stripes do not cool Zebras
Scientific Reports, 2018Co-Authors: Gábor Horváth, Ádám Pereszlényi, Dénes Száz, András Barta, Imre M. Jánosi, Balázs Gerics, Susanne ÅkessonAbstract:There are as many as 18 theories for the possible functions of the stripes of Zebras, one of which is to cool the animal. We performed field experiments and thermographic measurements to investigate whether thermoregulation might work for Zebra-striped bodies. A Zebra Body was modelled by water-filled metal barrels covered with horse, cattle and Zebra hides and with various black, white, grey and striped patterns. The barrels were installed in the open air for four months while their core temperature was measured continuously. Using thermography, the temperature distributions of the barrel surfaces were compared to those of living Zebras. The sunlit Zebra-striped barrels reproduced well the surface temperature characteristics of sunlit Zebras. We found that there were no significant core temperature differences between the striped and grey barrels, even on many hot days, independent of the air temperature and wind speed. The average core temperature of the barrels increased as follows: white cattle, grey cattle, real Zebra, artificial Zebra, grey horse, black cattle. Consequently, we demonstrate that Zebra-striped coats do not keep the Body cooler than grey coats challenging the hypothesis of a thermoregulatory role of Zebra stripes.
Masayoshi Oikawa - One of the best experts on this subject based on the ideXlab platform.
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familial hypertrophic obstructive cardiomyopathy with the gla e66q mutation and Zebra Body
BMC Cardiovascular Disorders, 2016Co-Authors: Masayoshi Oikawa, Nobuo Sakamoto, Atsushi Kobayashi, Satoshi Suzuki, Akiomi Yoshihisa, Takayoshi Yamaki, Kazuhiko Nakazato, Hitoshi Suzuki, Shuichi Saitoh, Yuichirou KikoAbstract:Fabry disease is caused by mutations in the α-galactosidase A (GLA) gene, which is located in X-chromosome coding for the lysosomal enzyme of GLA. Among many gene mutations, E66Q mutation is under discussion for its pathogenicity because there is no clinical report showing pathological evidence of Fabry disease with E66Q mutation. A 65-year-old Japanese female was referred to our hospital for chest discomfort on effort. Transthoracic echocardiography showed severe left ventricular (LV) hypertrophy with LV outflow obstruction. Maximum LV outflow pressure gradient was 87 mmHg, and Valsalva maneuver increased the pressure gradient up to 98 mmHg. According to medical interview, one of her younger sister and a nephew died suddenly at age 42 and 36, respectively. Another younger sister also presented LV hypertrophy with outflow obstruction. Maximum LV outflow pressure gradient was 100 mmHg, and the E66Q mutation was detected similar to the case. Endomyocardial biopsy specimens presented vacuolation of cardiomyocytes, in which Zebra bodies were detected by electron microscopic examination. Although the enzymatic activity of GLA was within normal range, the c. 196G>C nucleotide change, which lead to the E66Q mutation of GLA gene, was detected. We initially diagnosed her as cardiac Fabry disease based on the findings of Zebra Body. However, immunostaining showed few deposition of globotriaosylceramide in left ventricular myocardium, and gene mutations in the disease genes for hypertrophic cardiomyopathy (HCM), MYBPC3 and MYH6, were detected. Although the pathogenicity of the E66Q mutation cannot be ruled out, hypertrophic obstructive cardiomyopathy (HOCM) was more reasonable to explain the pathophysiology in the case. This is the confusable case of HOCM with Fabry disease with the GLA E66Q mutation. We have to take into consideration the possibility that some patients with the E66Q mutation may have similar histological findings of Fabry disease, and should be examed the possibility for harboring gene mutations associated with HCM.
