Disease relevance of CMYA1

• The gene product of cardiomyopathy associated 1 (CMYA1/XIRP1), Xin protein, is a clinical marker of muscle damage and up-regulated in myopathies [1].
• Myocarditis and cardiomyopathy associated with clozapine use in the United States [2].
• Early antimicrobial treatment of dilated cardiomyopathy associated with Borrelia burgdorferi [3].
• Hypertrophic cardiomyopathy associated with hereditary spherocytosis in three generations of one family [4].
• Cardiomyopathy associated with the syndrome of amyotrophic chorea and acanthocytosis [5].
• Cardiomyopathy associated with antiretroviral therapy in patients with HIV infection: a report of six cases [6].

Psychiatry related information on CMYA1

• A case is reported of dilated cardiomyopathy associated with excessive alcohol consumption that was remarkable with respect to the rapidity and extent of normalization in left ventricular systolic function after cessation of alcohol consumption [7].

High impact information on CMYA1

• Cardiomyopathy associated with the smoking of crystal methamphetamine [8].
• Reversible cardiomyopathy associated with cocaine intoxication [9].
• Arrhythmogenic right ventricular dysplasia/cardiomyopathy associated with mutations in the desmosomal gene desmocollin-2 [10].
• It is interesting that a nonsense DSP mutation was reported elsewhere in the literature, inherited as a recessive trait and causing a biventricular dilative cardiomyopathy associated with palmoplantar keratoderma and woolly hairs [11].
• Dilated cardiomyopathy associated with deficiency of the cytoskeletal protein metavinculin [12].

Chemical compound and disease context of CMYA1

• The treatment of hypertrophic cardiomyopathy-associated ventricular tachycardia with 'conventional' antiarrhythmic agents (disopyramide, quinidine, mexiletine) has seldom been successful [13].
• Hypertrophic cardiomyopathy associated with dexamethasone therapy for bronchopulmonary dysplasia [14].
• Recently, dexrazoxane was approved, but only for parenteral use for reducing the incidence and severity of cardiomyopathy associated with doxorubicin administration in women with metastatic breast cancer [15].
• Fatal cardiomyopathy associated with pegylated interferon/ribavirin in a patient with chronic hepatitis C [16].
• Mitochondrial respiratory function in a patient with maternally inherited type 2 diabetes mellitus and hypertrophic cardiomyopathy associated with heteroplasmic mitochondrial DNA (mtDNA) C3310T mutation, which replaces the second amino acid of NADH dehydrogenase 1 (ND1) from a hydrophobic Proline to a hydrophilic Serine, was investigated [17].

Biological context of CMYA1

• We have investigated the characteristics of the Xin repeats by transfection experiments and actin-binding assays and ascertained that, upon expression in cultured cells, these repeats bind to and stabilize the actin-based cytoskeleton [18].
• Differences in clinical expression of hypertrophic cardiomyopathy associated with two distinct mutations in the beta-myosin heavy chain gene. A 908Leu----Val mutation and a 403Arg----Gln mutation [19].
• Familial hypertrophic cardiomyopathy associated with a novel missense mutation affecting the ATP-binding region of the cardiac beta-myosin heavy chain [20].
• A high risk phenotype of hypertrophic cardiomyopathy associated with a compound genotype of two mutated beta-myosin heavy chain genes [21].
• We found that external Qi of Yan Xin Qigong dramatically inhibited basal phosphorylation levels of Akt and extracellular signal-regulated kinases, epidermal growth factor-mediated phosphorylation of extracellular signal-regulated kinases, and phosphatidylinositol 3-kinase activity [22].

Anatomical context of CMYA1

• Xin is a protein that is expressed during early developmental stages of cardiac and skeletal muscles [18].
• Cautious use of titrated metoprolol appears to be safe and beneficial when added to standard heart failure therapy in patients with dilated cardiomyopathy associated with coronary artery disease [23].
• Emery-Dreifuss muscular dystrophy (EDMD) is an X-linked recessive muscular dystrophy characterized by early contractures of the elbows, Achilles tendons and spine, slowly progressive muscle wasting and weakness, and cardiomyopathy associated with cardiac conduction defects [24].
• In contrast, treatment of fibroblasts with external Qi of Yan Xin Qigong induced transient activation of extracellular signal-regulated kinases and Akt, and caused no cytotoxic effect [22].
• Expansion of specific alphabeta+ T-cell subsets in the myocardium of patients with myocarditis and idiopathic dilated cardiomyopathy associated with Coxsackievirus B infection [25].

Associations of CMYA1 with chemical compounds

• Myomaxin Is a Novel Transcriptional Target of MEF2A That Encodes a Xin-related {alpha}-Actinin-interacting Protein [26].
• Cardiac hemodynamics, histologic findings and response to oral L-carnitine therapy were retrospectively evaluated in 11 children with cardiomyopathy associated with abnormal carnitine metabolism [27].
• Xin-repeats and nebulin-like repeats bind to F-actin in a similar manner [28].
• Use of dexrazoxane and other strategies to prevent cardiomyopathy associated with doxorubicin-taxane combinations [29].
• Dilated cardiomyopathy associated with chronic consumption of phendimetrazine [30].

Physical interactions of CMYA1

• It was revealed that a hypertrophic cardiomyopathy-associated mutation (Ser3799Tyr) increased the binding to FHL2 protein, whereas a dilated cardiomyopathy-associated mutation (Gln4053ter) decreased the binding [31].

Regulatory relationships of CMYA1

• These diabetic cardiomyopathy-associated alterations were significantly attenuated (P<0.05) in diabetic transgenic rats expressing the human kallikrein 1 (hKLK1) gene with STZ-induced diabetes [32].

Other interactions of CMYA1

• Human XIRP2 contains 28 Xin repeats with properties identical to those of Xin [18].
• We provide the first report of a cardiomyopathy associated mutation in vinculin [33].
• In conclusion, the high proportion of de novo mutations together with the large spectrum of both LMNA mutations and the expression of the disease should now prompt screening for LMNA in familial and sporadic cases of both EDMD and dilated cardiomyopathy associated with conduction system disease [34].
• We describe a novel mtDNA mutation in a patient with severe hypertrophic cardiomyopathy associated with MELAS [35].
• Clinical features of arrhythmogenic right ventricular dysplasia/cardiomyopathy associated with mutations in plakophilin-2 [36].

Analytical, diagnostic and therapeutic context of CMYA1

• Utilizing PCR, DHPLC, and direct DNA sequencing, we performed mutational analysis of five genes encoding cardiomyopathy-associated Z-disc proteins [37].
• We have used electron microscopy and the iterative helical real space reconstruction to visualize complexes of F-actin with Xin fragments containing either three or six Xin-repeats, and with the CN5-nebulette fragment, containing five nebulin-like repeats [28].
• Prolonged treatment with external Qi of Yan Xin Qigong caused rapid lysis of BxPC3 cells [22].
• Long-term clinical observations and ongoing studies have shown significant antitumor effect of external Qi of Yan Xin Qigong which originated from traditional Chinese medicine [22].
• To learn more about the dilated form of cardiomyopathy associated with obesity, we conducted a pooled analysis of data from two case-control studies of idiopathic dilated cardiomyopathy [38].

References