Clinical and molecular study of a new form of hereditary myotonia in Murrah water buffalo

Borges, Alexandre Secorun; Barbosa, José Diomedes; Resende, Lucilene Silva Ruiz e; Mota, Lígia Souza Lima Silveira da; Amorim, Rogério Martins; Carvalho, Thaís Louise Gurjão de; Garcia, José Fernando; Filho, José Paes de Oliveira; Oliveira, Carlos Magno Chaves; Souza, Jorge Estefano Santana de; Winand, Nena J.

doi:10.1016/j.nmd.2012.11.008

Cited by 14 publications

(18 citation statements)

References 43 publications

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“…In recent years, a large number of mutations associated with MC have been identified in CLCN1 in dog [41], [42], goat [22], horse [43], water buffalo [44], mouse, [45] and human [5]. These mutations are dispersed throughout the entire coding and non-coding regions and result in distinct alterations of channel kinetics.…”

Section: Discussionmentioning

confidence: 99%

A Novel Mutation in CLCN1 Associated with Feline Myotonia Congenita

et al. 2014

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Myotonia congenita (MC) is a skeletal muscle channelopathy characterized by inability of the muscle to relax following voluntary contraction. Worldwide population prevalence in humans is 1∶100,000. Studies in mice, dogs, humans and goats confirmed myotonia associated with functional defects in chloride channels and mutations in a skeletal muscle chloride channel (CLCN1). CLCN1 encodes for the most abundant chloride channel in the skeletal muscle cell membrane. Five random bred cats from Winnipeg, Canada with MC were examined. All cats had a protruding tongue, limited range of jaw motion and drooling with prominent neck and proximal limb musculature. All cats had blepharospasm upon palpebral reflex testing and a short-strided gait. Electromyograms demonstrated myotonic discharges at a mean frequency of 300 Hz resembling the sound of a ‘swarm of bees’. Muscle histopathology showed hypertrophy of all fiber types. Direct sequencing of CLCN1 revealed a mutation disrupting a donor splice site downstream of exon 16 in only the affected cats. In vitro translation of the mutated protein predicted a premature truncation and partial lack of the highly conserved CBS1 (cystathionine β-synthase) domain critical for ion transport activity and one dimerization domain pivotal in channel formation. Genetic screening of the Winnipeg random bred population of the cats' origin identified carriers of the mutation. A genetic test for population screening is now available and carrier cats from the feral population can be identified.

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Section: Discussionmentioning

confidence: 99%

A Novel Mutation in CLCN1 Associated with Feline Myotonia Congenita

et al. 2014

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“…Os búfalos afetados apresentam-se rígidos, movem-se lentamente e com esforço, no entanto a rigidez muscular é menos visível após o exercício, indicando um fenômeno de aquecimento. Os animais apresentam dificuldade para levantar e a rigidez é sempre aparente nos primeiros movimentos após o descanso (Borges et al 2013). Há queda em decúbito lateral com contração dos músculos dos membros e opistótono, que dura de alguns segundos a no máximo um minuto.…”

Section: Miotonia Hereditáriaunclassified

“…Os sinais clínicos são semelhantes aos da miotomia hereditária que ocorre nos caprinos e que é determinada por um gene dominante (Radostits et al 2007). Entretanto, foi demonstrado que a miotonia hereditária dos bubalinos é uma enfermidade de caráter autossômico recessivo e de ampla distribuição nos animais da raça Murrah (Borges 2008, Borges et al 2013.…”

Section: Miotonia Hereditáriaunclassified

“…Em búfalos afetados por miotomia hereditária foi demonstrado, por estudos moleculares, que as descargas miotônicas, detectadas por eletromiografia e a ausência de outras distrofias musculares ou fraqueza muscular, devem--se a anormalidades no gene que codifica os canais de cloro (Borges et al 2006, Borges 2008, Borges et al 2013.…”

Section: Miotonia Hereditáriaunclassified

“…Recentemente, com as participações da Universidade do Estado de São Paulo e da Universidade Federal da Paraíba foi realizado o sequenciamento do gene defeituoso responsável pelo albinismo óculo-cutâneo . O gene responsável pela miotonia hereditária foi, também, sequenciado (Borges et al 2013). Em vista disso, atualmente já é possível selecionar reprodutores e matrizes livres de genes que poderiam levar a essas duas enfermidades, sendo esse fato de extrema relevância para o desenvolvimento da bubalinocultura nacional.…”

Section: Considerações Geraisunclassified

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Doenças hereditárias e defeitos congênitos diagnosticados em búfalos (Bubalus bubalis) no Brasil

2013

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Pesq. Vet. Bras. 33 (7) A review on hereditary diseases and/or congenital defects diagnosed in water buffaloes in Brazil is performed. The epidemiological, clinical and pathological aspects of each disease or group of diseases are briefly described. Hereditary diseases include acantholytic mechanobullous dermatosis, arthrogryposis, myotonia, hydranencephaly, chondrodysplasia, and albinism. Congenital defects of unknown cause include megaesophagus, heart defects (patent ductus arteriosus), dermatosparaxia, and different defects of the reproductive system. The breeds most affected by genetic diseases are those from Asian Continent (Murrah and Jafarabadi), probably as a result of inbreeding in Brazilian herds due the prohibition of importation of breeding buffalo from that continent. The diagnosis of two hereditary diseases, arthrogryposis and myotonia, in Rio Grande do Sul (southern Brazil) and Pará (nothern Brazil) suggests that the undesirable genes are widespread in the buffalo population. The identification of these genes by molecular techniques associated with the buffalo breeding with correct sanitary, zootechnical, and reproductive control practices can decrease the negative effects of genetic diseases in the Brazilian buffalo herd.

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Congenital, familial, and genetic disorders

2022

Large Animal Neurology

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Clinical and molecular study of a new form of hereditary myotonia in Murrah water buffalo

Cited by 14 publications

References 43 publications

A Novel Mutation in CLCN1 Associated with Feline Myotonia Congenita

A Novel Mutation in CLCN1 Associated with Feline Myotonia Congenita

Doenças hereditárias e defeitos congênitos diagnosticados em búfalos (Bubalus bubalis) no Brasil

Congenital, familial, and genetic disorders

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