Glicogenose hereditária em bovinos Brahman no Brasil

Zlotowski, Priscila; Nakazato, Luciano; Dutra, Valéria; Barros, Severo Sales de; Gimeno, E. J.; Göcks, Marcelo; Colodel, Edson M.; Driemeier, David

doi:10.1590/s0100-736x2005000400004

Cited by 2 publications

(3 citation statements)

References 18 publications

(23 reference statements)

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“…Calves affected by GSD-II usually have progressive muscular weakness and ill-thrift, with a life expectancy of less than 12 months (Reichmann et al 1993). Only one report of E7 GSD-II was described in a farm located in the Southern region of Brazil (Zlotowski et al 2005). However, the data of the present study, reinforce the hypothesis that affected animals (E7 GSD-II) are probably being born in Brazil and dying before weaning without having the cause of death correctly diagnosed.…”

Section: Discussionsupporting

confidence: 69%

Prevalence of mutations responsible for glycogen storage disease type-II and congenital myasthenic syndrome in Brazilian Brahman cattle

et al. 2018

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Glycogen storage disease type II (GSD-II) and congenital myasthenic syndrome (CMS) are important autosomal recessive disorders in Brahman cattle. The objective of this study was to investigate the presence of mutations responsible for GSD II (E7, c.1057_1058delTA; and E13, c.1783C>T) and CMS (c.470del20) in purebred Brazilian Brahman cattle and in purebred Brahman bulls that were routinely used in breeding programs in Brazil. A total of 276 purebred Brahman cattle (167 females and 109 males, with ages ranging from 12-24 months) and 35 frozen semen samples taken from purebred Brahman bulls (22 bulls from the USA, 11 Brazilian bulls, one Argentine bull and one Australian bull) were used in this study. Genomic DNA was purified from hair root samples and from semen samples. Purified DNA was used in PCR genotyping to mutations c.1057_1058delTA (E7) and c.1783C>T (E13) in the GAA gene and c.470del20 in the CHRNE gene. The PCR products were purified and sequenced. The genotypic frequencies per polymorphism were estimated separately. Of the 276 Brahman cattle tested, 7.3% were identified as heterozygous for E7. All Brahman cattle studied were homozygous for the wild-type E13 allele. The E7 mutations was identified as heterozygous in 8.6% (3/35) of the commercial semen samples, whereas the E13 mutations was not identified. The c.470del20 mutation was identified as heterozygous in 0.73% of the hair root samples, but this mutation was not present in any semen sample assessed. No study had previously evaluated the prevalence of mutations responsible for GSD II or CMS in Brazilian Brahman cattle. In summary, the E7 and c.470del20 mutations are present in the Brazilian Brahman herd, and control measures should be adopted to prevent an increase in the incidence of GSD-II and CMS in Brahman cattle in Brazil.

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Section: Discussionsupporting

confidence: 69%

Prevalence of mutations responsible for glycogen storage disease type-II and congenital myasthenic syndrome in Brazilian Brahman cattle

et al. 2018

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“…No Brasil, dentre esses grupos de doenças congênitas já foram relatadas: degeneração cerebelar cortical em bovinos Holandês, hipermetria hereditária em bovinos Shorthorn, hipomielinogê-nese congênita, hipoplasia cerebelar em bovinos Charolês (Schild 2001) e glicogenose generalizada em Brahmans (Zlotowski et al 2005). Geralmente, em todas essas doenças, os sinais clínicos aparecem logo após o nascimento ou nas primeiras semanas ou meses de idade (Scarratt 2004).…”

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“…A documentação da ocorrência de glicogenose hereditária em bovinos Brahman (Zlotowski et al 2005 (Driemeier et al 2000), lipofuscinose causada por Phalaris angusta (Barros et al 2006) e uma neurolipidose causada por Solanum fastigiatum (RietCorrea et al 1983b, Barros et al1987, Paulovich et al 2002.…”

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Intoxicação por Solanum fastigiatum (Solanaceae) em bovinos: epidemiologia, sinais clínicos e morfometria das lesões cerebelares

et al. 2006

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Os bovinos afetados tinham idade média de 5 anos (2-8 anos) e a evolução clínica variou de 3-18 meses. Os sinais clínicos observados em todos os bovinos foram de disfunções cerebelares caracterizadas por hipermetria, incoordenação, quedas, tremores musculares, convulsões esporádicas e permanência em estação com os membros em base ampla. Em um bovino foi observada hemorragia traumática subdural no encéfalo e em outro, atrofia macroscópica do cerebelo. As lesões histológicas eram confinadas ao cerebelo e consistiram de vacuolização parcial ou total do pericário dos neurônios de Purkinje com ocasionais esferóides axonais na camada de células granulares e na substância branca cerebelar. Nos casos avançados, havia acentuada perda dos neurônios de Pukinje e proliferação dos astrócitos de Bergmann. O estudo morfométrico do número de neurônios de Purkinje e da espessura da camada molecular revelou um decréscimo no número de células de Purkinje que se correlacionou com conseqüente diminuição da espessura da camada molecular. Nineteen cases of Solanum fastigiatum (Solanaceae) poisoning in cattle from three municipalites in the State of Rio Grande do Sul, Brazil, occurring from 2003 to 2005, are described. Morbidity and mortality rates were respectively 6.7% and 3.4%. Average age of affected cattle was five-yearold (2 to 8-year-old) and duration of clinical courses was 3-18 months. Clinical signs observed in all affected cattle were cerebellar deficits characterized by hypermetry, incoordination, falls, muscle tremors, transitory seizures and wide base stance. One affected bovine had encephalic traumatic subdural hemorrhage and another had gross atrophy of the cerebellum. Histologically, lesions were restricted to the cerebellum and consisted of partial or complete vacuolation of the perikaria of Purkinje neurons with occasional axonal spheroids in the granular cell layer and in the white matter of the cerebellum. In advanced cases there were extensive loss of cerebellar Purkinje neurons and proliferation of the Bergmann's glia. The morphometric evaluation of the numbers of Purkinje neurons and of the thickness of the cerebellar molecular layer indicated decreased numbers of Purkinje neurons with consequent decrease in the molecular layer thickness.INDEX TERMS: Poisonous plants, Solanum fastigiatum, Solanaceae, lysosomal storage diseases, central nervous system, diseases of cattle, neuropathology.

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Glicogenose hereditária em bovinos Brahman no Brasil

Cited by 2 publications

References 18 publications

Prevalence of mutations responsible for glycogen storage disease type-II and congenital myasthenic syndrome in Brazilian Brahman cattle

Prevalence of mutations responsible for glycogen storage disease type-II and congenital myasthenic syndrome in Brazilian Brahman cattle

Intoxicação por Solanum fastigiatum (Solanaceae) em bovinos: epidemiologia, sinais clínicos e morfometria das lesões cerebelares

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