Functional polymorphisms in genes of the Angiotensin and Serotonin systems and risk of hypertrophic cardiomyopathy: AT1R as a potential modifier.

Background: Angiotensin and serotonin have been identified as inducers of cardiac hypertrophy. DNA polymorphisms at the genes encoding components of the angiotensin and serotonin systems have been associated with the risk of developing cardiovascular diseases, including left ventricular hypertrophy (LVH).

Methods: We genotyped five polymorphisms of the AGT, ACE, AT1R, 5-HT2A, and 5-HTT genes in 245 patients with Hypertrophic Cardiomyopathy (HCM; 205 without an identified sarcomeric gene mutation), in 145 patients with LVH secondary to hypertension, and 300 healthy controls.

Mitochondrial transcription factors TFA, TFB1 and TFB2: a search for DNA variants/haplotypes and the risk of cardiac hypertrophy.

Mitochondrial transcription factors mtTFA, mtTFB1 and mtTFB2 are required for the replication of mitochondrial DNA (mtDNA), regulating the number of mtDNA copies. Mice with a mtTFA deletion showed a reduced number of mtDNA copies, a reduction in respiratory chain activity, and a characteristic dilated cardiomyopathy. DNA variants in these genes could be involved in the risk for cardiac hypertrophy (HCM).

Hypertrophic cardiomyopathy and athlete's heart: a tale of two entities.

Sudden death during sports activities, although unfrequent, is a tragic event with great impact on both the general and medical communities. The two commonest conditions leading to sudden cardiac death in young athletes are hyperthrophic cardiomyopathy (HCM), the main cause in the USA, and arrythmogenic right ventricular cardiomyopathy, which is the leading cause in Europe. We report the case of a 17-year-old football player with a pathological electrocardiography (ECG) in the pre-participation screening programme, highly suggestive of HCM, in which ECG study showed a septum thickness of 28 mm.

IL-1beta (+3954C/T) polymorphism could protect human immunodeficiency virus (HIV)-infected patients on highly active antiretroviral treatment (HAART) against lipodystrophic syndrome.

Purpose: To evaluate the impact of acquired and inherited factors on the development of lipodystrophic syndrome in patients on highly active antiretroviral therapy.

Methods: Two hundred forty-three human immunodeficiency virus-infected Caucasians on highly active antiretroviral therapy were prospectively followed-up for 3 years. Eleven were naIve and 232 were on antiretrovirals (mean, 93.

Mitochondrial haplogroup T is negatively associated with the status of elite endurance athlete.

Mitochondrial function is absolutely necessary to supply the energy required for muscles, and germ line mutations in mitochondrial genes have been related with impaired cardiac function and exercise intolerance. In addition, alleles at several polymorphic sites in mtDNA define nine common haplogroups, and some of these haplogroups have been implicated in the risk of developing several diseases. In this study, we analysed the association between mtHaplogroups and the capacity to reach the status of elite endurance athlete.

Mitochondrial DNA haplogroups in Spanish patients with hypertrophic cardiomyopathy.

Mutations in mtDNA have been implicated in the development of hypertrophic cardiomyopathy (HCM), including cases from families with a maternal transmission. Alleles at several polymorphic sites in mtDNA define different haplogroups and some of these haplogroups have been involved in the risk of developing several diseases in which mitochondria should be involved. We analysed the association between the nine common European haplogroups and HCM.

Recessive hyperekplexia due to a new mutation (R100H) in the GLRA1 gene.

Hyperekplexia is commonly familial and with dominant transmission. The gene involved, GLRA1, encodes the alpha1 subunit of the glycine receptor. We describe 3 affected children homozygous for a new mutation, R100H.

Mitochondrial DNA polymorphisms and risk of Parkinson's disease in Spanish population.

Mutations in mitochondrial DNA (mtDNA) have been implicated in the development of Parkinson's disease (PD). Mitochondrial function is necessary to supply the energy required for cell metabolism, and mutations in mitochondrial genes should have a deleterious effect in neuronal function. An association between several common mtDNA-polymorphisms and the risk of PD has been described.

Association between genetic variation in the Y chromosome and hypertension in myocardial infarction patients.

A single nucleotide polymorphism (SNP) in chromosome Y has been associated with blood pressure. In men, the risk of suffering from cardiovascular diseases, including coronary artery disease, could be influenced by one or more loci on chromosome Y. We genotyped 208 men who had suffered an early episode of myocardial infarction (MI) (< or =55 years) and 178 healthy control men for two Y-polymorphisms (a HindIII polymorphism in an alphoid satellite in the centromeric non-recombining region and the -2627 T/C in the SRY gene).