Inherited Metabolic Myopathy and Hemolysis Due to a Mutation in Aldolase A

Kreuder, Joachim; Borkhardt, Arndt; Repp, Reinald; Pekrun, Arnulf; Göttsche, B.; Gottschalk, U; Reichmann, Heinz; Schachenmayr, W; Schlegel, Kurt; Lampert, F.

doi:10.1056/nejm199604253341705

Cited by 92 publications

(58 citation statements)

References 19 publications

(22 reference statements)

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“…High expression of aldolase A was detected in the fetal liver in rats, and it was much lower in adults (Schapira et al 1971, Hatzfeld et al 1978, Gefflaut et al 1995. Mutation in aldolase A was indicated by Kreuder et al (1996) to be associated with myopathy and hemolytic anaemia. Aldolase A expression was found to be increased in various neoplasms in humans, such as lung, liver, gastric or colorectal cancer (Asaka et al 1994, Tomonaga et al 2004).…”

Section: Discussionmentioning

confidence: 99%

Overexpression of aldolase A and cytokeratin 19 in ovine pulmonary adenocarcinoma

Kycko¹,

Reichert²

2012

Polish Journal of Veterinary Sciences

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Ovine pulmonary adenocarcinoma (OPA) is a transmissible lung cancer of sheep caused by jaagsiekte sheep retrovirus (JSRV). In the present study the protein profiles of five neoplastic and three non-neoplastic sheep lung tissues were examined for the identification of proteins overexpressed in ovine pulmonary adenocarcinoma. Lung sections of the experimental group of sheep were collected during necropsies for proteomic and immunohistochemical examination. Two dimensional electrophoresis (2DE) was performed using gel strips with immobilized pH gradient 3-10. As a result of 2DE gel analysis 14 spots characterized by over 2-fold higher expression in tumour proteomes were selected for mass spectrometry. In eleven spots more than one polypeptide was identified indicating overlapping of proteins in gels. In two spots demonstrating over 3-fold higher expression in OPA proteomes, single proteins: cytokerarin 19 (CK19) and aldolase A were identified. Immunohistochemical studies revealed that CK19 and aldolase A were expressed in the cytoplasm of epithelial cells of bronchioles in non-neoplastic lung sections, as well as epithelial cells of bronchioles and neoplastic cells in lung sections of OPA affected sheep. The results indicate that the overexpression of the two proteins reflects the presence of neoplastic cells in the lungs of OPA affected sheep.

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Section: Discussionmentioning

confidence: 99%

Overexpression of aldolase A and cytokeratin 19 in ovine pulmonary adenocarcinoma

Kycko¹,

Reichert²

2012

Polish Journal of Veterinary Sciences

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“…Специфический дефицит альдолазы А. Глюкоза яв-ляется важным энергетическим ресурсом для эритро- [39,41], а в 2 случаях в дебюте криза развивался рабдомиолиз, сопровождав-шийся прогрессированием симптоматики [36,39]. Данный вид патологии мышц проявляется жировой миопатией с повышением внутриклеточного содержа-ния жировых скоплений в миобластах пациента, свя-занной с удлинением гена ALDO A. Обнаруживаемые жировые включения присутствуют при воспалении, а также при воспалительной стрессовой реакции [43,44].…”

Section: нервно-мышечные б о л е з н иunclassified

“…Четвертичная структура фермента, также как и мутации, способствует термола-бильности [45]. Сходная термолабильность обнаруже-на при более высоких температурах и в эритроцитах [39,40,46] и проанализирована методом расчета ста-бильности белка [35]. Возможно, в связи с тем, что эри-троциты широко представлены в ткани крови, они более устойчивы к внешним факторам, чем миобласты [47].…”

Section: нервно-мышечные б о л е з н иunclassified

Acute rhabdomyolysis

Lonlay

Mamoune

Hamel

et al. 2015

Neuromuscular Diseases

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Ключевые слова : рабдомиолиз, лихорадка, термочувствительный рабдомиолиз, наследственный рабдомиолиз, термолабильность, альдолаза А, миопатия, миоглобинурия, провоспалительные медиаторы, гемолитическая анемия, миозит, аденозинтрифосфат, статины, липидные капли, дефект ß окисления жирных кислот, мутации LPIN1, дефект AMACR

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“…Human aldolase A is composed of four identical subunits encoded by a single gene located on chromosome 16 (16q22-q24). Aldolase A deficiency has been reported as a rare, autosomal recessive disorder (Kreuder et al, 1996;Yao et al, 2004). Alterations in the aldolase A gene leading to amino acid substitutions: Asp128→Gly (Kishi et al, 1987), Glu206→Lys (Kreuder et al, 1996), Gly346→Ser have been described.…”

Section: Point Mutation In Aldolasementioning

confidence: 99%

“…Aldolase A deficiency has been reported as a rare, autosomal recessive disorder (Kreuder et al, 1996;Yao et al, 2004). Alterations in the aldolase A gene leading to amino acid substitutions: Asp128→Gly (Kishi et al, 1987), Glu206→Lys (Kreuder et al, 1996), Gly346→Ser have been described. The Glu206→Lys mutation destabilizes the aldolase A tetramer at the subunit interface, the Gly346→Ser mutation limits the flexibility of the C-terminal region.…”

Section: Point Mutation In Aldolasementioning

confidence: 99%