Genetic characteristics of myoadenylate deaminase deficiency

Verzijl, H. T. F. M.; Engelen, B.G.M. van; Luyten, J. A. F. M.; Steenbergen, Gerry; Heuvel, L.P.W.J. van den; Laak, H.J. ter; Padberg, G.W.A.M.; Wevers, Ron A.

doi:10.1002/ana.410440124

Cited by 62 publications

(70 citation statements)

References 13 publications

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“…Moreover, Safranow et al (2009) reported no significant association between SBP and genotype, although DBP was higher in the CC genotype carriers than in the other subjects. In this study, we found a 2% AMPD1 deficiency in the CT (or heterozygous) genotype, which agrees with previous studies (Morisaki et al, 1992;Verzijl et al, 1998). However, our findings from this study were not in general agreement with those of previous researchers, who claimed that AMPD1 polymorphisms have no harmful effect on the human body (Verzijl et al, 1998).…”

Section: Discussionsupporting

confidence: 64%

“…C34T (rs17602729), which represents the transition C>T at the 34th nucleotide, is a nonsense mutation that results in the formation of a premature stop codon in the second exon; it is the most common type of AMPD1 polymorphism among Caucasians, with a frequency of 10%-15%. This type of mutation occurs in more than 2% of Caucasian and African-American populations (Morisaki et al, 1992;Verzijl et al, 1998;Toyama et al, 2004;Rubio et al, 2005).…”

Section: Introductionmentioning

confidence: 99%

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Association between the C34T polymorphism of the AMPD1 gene and essential hypertension in Malaysian patients

Nemati¹,

Lü²,

Ramachandran³

et al. 2016

Genet. Mol. Res.

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ABSTRACT. The aim of this study was to determine whether C34T, a common polymorphism of the adenosine monophosphate deaminase 1 gene (AMPD1), is associated with essential hypertension (EH). We hypothesize that C34T is associated with the development of EH. A casecontrol design was used for this study. The DNA was extracted using a commercial kit from the whole blood of 200 patients with hypertension and 200 subjects without hypertension from selected Malaysian ethnicities (Malays, Chinese, and Indians). Polymerase chain reaction followed by restriction fragment length polymorphism (PCR-RFLP) and agarose gel electrophoresis were used for genotyping. The C34T gene polymorphism of AMPD1 was significantly associated with EH in the Malaysian subjects (P < 0.0001). The genotype frequencies of CC, CT, and TT were 6%, 79%, and 15%, respectively, among hypertensive subjects, while no TT genotypes were observed in the normotensive subjects. Further, the frequency of hypertension was higher among T allele carriers than C carriers (OD = 9.94; 95%CI = 6.851-14.434). There were significant differences in the systolic blood pressure, diastolic blood pressure, and pulse pressure (P ˂ 0.05) between the normotensive and hypertensive Malaysian subjects; we believe those difference were caused by the C34T polymorphism. For the first time in Malaysia, the current study provides evidence that a common polymorphism of the AMPD1 gene (C34T) is strongly associated with EH.

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Section: Discussionsupporting

confidence: 64%

Section: Introductionmentioning

confidence: 99%

Association between the C34T polymorphism of the AMPD1 gene and essential hypertension in Malaysian patients

Nemati¹,

Lü²,

Ramachandran³

et al. 2016

Genet. Mol. Res.

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“…However, approximately 2% of Caucasians exhibit a skeletal muscle AMPD deficiency and nearly 20% are carriers of this genetic disorder [1,2] . In the majority of cases this deficiency is due to a nonsense mutation (C34T) in exon 2 of the AMPD1 gene resulting in a premature stop codon and a truncated inactive enzyme [3] .…”

Section: Introductionmentioning

confidence: 99%

Association between AMPD1 Gene Polymorphism and Coagulation Factors in Patients with Coronary Heart Disease

Agewall¹,

Norman²

2006

Pathophysiol Haemos Thromb

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The aim of this study was to investigate whether the C34T and G468T variations in the adenosine monophosphate deaminase-1 (AMPD1) gene were associated with intima-media thickness of the carotid and brachial artery, endothelial function of the brachial artery, glucose metabolism, haemostatic variables and cardiac hypertrophy in patients (n = 109) with coronary heart disease. The plasminogen activator inhibitor-1 activity and the von Willebrand factor were higher in the CC homozygote group compared to the CT/TT group (p < 0.05). There were no differences between the groups regarding intima-media complex of the carotid and brachial artery, presence of plaque in the carotid region, flow-mediated dilatation, ejection fraction or dimensions of the heart. In conclusion, there were no differences between the mutant AMPD1 allele carriers and CC homozygotes regarding surrogate values for atherosclerosis, endothelial function, dimensions and ejection fraction of the heart, glucose tolerance and other well-known cardiovascular risk factors, whereas plasminogen activator inhibitor-1 activity and von Willebrand levels were lower in the mutant AMPD1 allele carriers.

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“…Absence of MAD occurs in approximately 2% of muscle biopsy submitted to pathologic examination for suspected neuromuscular disease 6 . MAD deficiency have been described in muscle biopsy of patients with polyneuropathy, infantile spinal muscular atrophy, congenita myopathy with type-2 fiber atrophy, facioscapulohumeral myopathy, polymyositis, dermatomyositis, myotonic dystrophy, limb-girdle muscular dystrophy, dystrophinopathies, systemic sclerosis, McArdle's disease, phosphofructokinase deficiency, and hyperornithinaemia with gyrate atrophy of the retina 3,[7][8][9] . MAD deficiency associated with other neuromuscular disorders was previously thought to be the result of a limitation in MAD transcript availability, secondary to the pathological abnormalities in a variety of neuromuscular or rheumatological disorders.…”

Section: Discussionmentioning

confidence: 99%

“…MAD deficiency associated with other neuromuscular disorders was previously thought to be the result of a limitation in MAD transcript availability, secondary to the pathological abnormalities in a variety of neuromuscular or rheumatological disorders. Verzijl et al 7 found that isolated MAD deficiency and MAD deficiency associated with other neuromuscular disorders had the same underlying molecular DNA defect. In the latter cases, MAD deficiency is merely a chance association, due, a concurrence of the frequently occurring mutant MAD allele with another neuromuscular disorder.…”

Section: Discussionmentioning

confidence: 99%

Myotonia congenita and myoadenylate deaminase deficiency: case report

Scola

Iwamoto

Camargo

et al. 2003

Arq. Neuro-Psiquiatr.

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-Approximately 1-2% of the population has a deficiency of the enzyme myoadenylate deaminase. Early reports suggested that patients with myoadenylate deaminase deficiency had various forms of myalgia, and exercise intolerance. However, a deficiency of the enzyme has been described in many conditions, including myopathies, neuropathies, and motor neuron disease. We report a patient with clinical diagnosis of myotonia congenita and absent myoadenylate deaminase reaction on the muscle biopsy. This is the first description of myoadenilate deaminase deficiency with myotonia congenita. Myoadenylate deaminase deficiency is the most common enzymatic deficit of muscle, and the association with other neuromuscular diseases is coincidental.KEY WORDS: myotonia congenita, myoadenilate deaminase, muscle biopsy.Miotonia congênita e deficiência de mioadenilato deaminase: relato de caso Miotonia congênita e deficiência de mioadenilato deaminase: relato de caso Miotonia congênita e deficiência de mioadenilato deaminase: relato de caso Miotonia congênita e deficiência de mioadenilato deaminase: relato de caso Miotonia congênita e deficiência de mioadenilato deaminase: relato de caso RESUMO -Aproximadamente 1-2% da população apresenta deficiência de mioadenilato deaminase (MAD). Estudos iniciais sugeriam que pacientes com deficiência de MAD apresentavam várias formas de mialgias e intolerância ao exercício. Contudo, a deficiência de MAD já foi descrita em várias situações, incluindo miopatias, neuropatias e doenças do neurônio motor. Relatamos um paciente com o diagnóstico clínico de miotonia congênita e deficiência de MAD na biópsia muscular. Essa é a primeira descrição de deficiência de MAD associada a miotonia congênita. A deficiência de MAD é o déficit enzimático mais comum nos músculos esqueléticos e sua associação com diversas doenças neuromusculares é apenas coincidência. PALAVRAS-CHAVE: miotonia congênita, mioadenilato deaminase, biópsia muscular.

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Genetic characteristics of myoadenylate deaminase deficiency

Cited by 62 publications

References 13 publications

Association between the C34T polymorphism of the AMPD1 gene and essential hypertension in Malaysian patients

Association between the C34T polymorphism of the AMPD1 gene and essential hypertension in Malaysian patients

Association between AMPD1 Gene Polymorphism and Coagulation Factors in Patients with Coronary Heart Disease

Myotonia congenita and myoadenylate deaminase deficiency: case report

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