[Role of genetics in the etiology of synucleinopathies]. / Papel de la genética en la etiología de las sinucleinopatías.

The protein family known as synucleins is composed of α-, ß- and γ-synuclein. The most widely studied is the α-synuclein protein due to its participation in essential processes of the central nervous system. Neurotoxicity of this protein is related to the presence of multiplications (duplications and triplications) and point mutations in the gene sequence of the α-synuclein gene (SNCA), differential expression of its isoforms and variations in post-transductional modifications. Neurotoxicity is also related to cytoplasmic inclusions known as Lewy bodies (LBs) and Lewy neurites (LNs), which are also present in α-synucleinopathies. In general, the ß-synuclein protein, codified by the SNCB gene, acts as a regulator of processes triggered by α-synuclein and its function is altered by variations in the gene sequence, while γ-synuclein, codified by the SNCG gene, seems to play a major role in certain tumoral processes.

Cardiac sympathetic denervation precedes nigrostriatal loss in the E46K mutation of the alpha-synuclein gene (SNCA).

INTRODUCTION: Here we report the case of an asymptomatic carrier of the E46K substitution in alpha-synuclein gene where we have documented that cardiac sympathetic denervation precedes nigrostriatal dopaminergic loss. MATERIAL AND METHODS: She has been followed up regularly with standard neurological examination, UPDRS, neuropsychological formal testing, parkinson disease sleep scale-PDSS, Epworth scale, Hamilton-D scale, SCOPA Aut, orthostatic hypotension test, brief smell identification test, polysomnography, cerebral 123-I-FP-CIT SPECT, and, 123I-MIBG cardiac scintigraphy. RESULTS: She shows no presence of orthostatic hypotension. Olfactory test results demonstrate normal limits. In the PSG the nocturnal sleep shows mild abnormalities although the sleep efficiency and stage proportion remain under normal limits. The 123-I-FP-CIT SPECT is normal; in contrast, the 123I-MIBG cardiac scintigraphy shows a complete lack of isotopic uptake compatible with a severe sympathetic myocardial denervation. CONCLUSION: This example of monogenic autosomal dominant parkinsonism due to an alpha-synuclein mutation favours the hypothesis that peripheral autonomous nervous system involvement occurs earlier than the CNS degeneration.

SNPSTR rs59186128_D7S820 polymorphism distribution in European Caucasoid, Hispanic, and Afro-American populations.

Single nucleotide polymorphisms (SNPs) in the flanking regions of microsatellite loci (SNPSTRs) help to increase the power of discrimination of short tandem repeat (STR) loci. SNPs are positions in the genome that have been well-conserved over the course of evolution, so analysing them can help distinguish between STR alleles in which the number of repetitions matches due to descent from those which match by chance. This provides support for the determination of biological paternity and other kinship analyses in which mutation needs to be ruled out as grounds for exclusion. Locus D7S820 shows a variable position, SNP rs59186128, in the 5' flanking region. This study is set out (1) to determine the frequencies of SNP rs59186128 in populations with various geographical origins and (2) to estimate the possible contribution of rs59186128 to the allele discrimination of locus D7S820. To that end, individuals from European Caucasoid, Hispanic, and Afro-American populations are studied using denaturing high-performance liquid chromatography, which enables locus rs59186128 to be quickly and highly cost-effectively screened. Moreover, a method is established for determining the haplotypes of SNPSTR rs59186128_D7820. The results show that SNP rs59186128 has a T allele frequency of more than 0.15 in one of the Afro-American populations studied, and the haplotype analysis shows that there is no preferential association between the alleles of SNPSTR rs59186128_D7S820, which supports the idea that they could be useful in forensic applications.

[Behavior of the night decrease of arterial pressure after suppression controlled of the antihypertensive medication]. / Comportamiento del descenso nocturno de la presión arterial tras la supresión controlada de la medicación antihipertensiva.

OBJECTIVE: The patients with hypertension who do not present a night decrease of the arterial pressure are a bigger degree of target organ damage due to the supported hypertension. In our work we analyzed after ambulatory blood pressure monitoring (ABPM) the prevalence of the condition dipper of the patients with hypertension of degree 1 and/or 2 after the suppression controlled of the antihypertensive medication; as well as the magnitude of the effect of white coat (object of another study). DESIGN: Almost experimental study and descriptive. SETTING: Primary care. Urban health centre. Participants measurements and results. Studies of ABPM were realized in 70 essential hypertense patients with good control of the arterial pressure after pharmacological treatment before suspending the antihypertensive medication (1 phase) and to the 4 weeks of leaving the treatment (2 phase), two periods being programmed: diurnal and night. RESULTS: Of all 70 hypertense patients, 18 (26%) did not manage to carry out 2 ABPM since after the retreat of the medication there presented blood pressure unacceptable values that forced to re-introduce the medicaments. The 79% of the hypertense patients were dipper after the 1 monitoring and that after the suppression of the antihypertensive medication, 83% was continuing being dipper. Depending on the gender there were no statistically significant differences as for the night decrease of the arterial pressure in both periods. Finally, 75% and 11.5% of the patients were dippers or not dippers, respectively, in both phases and only 13.5% of the patients it changed its condition. CONCLUSIONS: The retreat of the medication in hypertense of degree 1 and/or 2 well controlled does not modify the patients' percentage with night decreases of the blood pressure.

Comportamiento del descenso nocturno de la presión arterial tras la supresión controlada de la medicación antihipertensiva / Behavior of the night decrease of arterial pressure after suppression controlled of the antihypertensive medication

Objetivo. Los pacientes con hipertensión arterial (HTA) que no presentan un descenso nocturno de la presión arterial (PA) suelen tener un mayor grado de afección de órganos diana debido a la hipertensión mantenida. En nuestro trabajo analizamos, mediante monitorización ambulatoria de la presión arterial (MAPA), la prevalencia de la condición dipper de los pacientes con HTA de grados 1 y 2 tras la supresión controlada de la medicación antihipertensiva, así como la magnitud del efecto de bata blanca (objeto de otro estudio).Diseño. Estudio cuasi-experimental y descriptivo. Emplazamiento. Atención primaria. Centro de salud urbano. Participantes mediciones y resultados. Se realizaron estudios de MAPA a 70 hipertensos esenciales con buen control de la PA después de tratamiento farmacológico antes de suspender la medicación antihipertensiva (1.ª fase) y a las 4 semanas de abandonar el tratamiento (2.ª fase), programándose dos períodos, diurno y nocturno. Resultados. De los 70 pacientes hipertensos, 18 (26 por ciento) no llegaron a realizarse la segunda MAPA, ya que tras la retirada de la medicación presentaron valores inaceptables de PA que obligaron a reintroducir los fármacos antihipertensivos. El 79 por ciento de los pacientes hipertensos eran dipper tras la primera monitorización, y tras la supresión de la medicación antihipertensiva el 83 por ciento continuaba siendo dipper. En función del sexo, no hubo diferencias estadísticamente significativas en cuanto al descenso nocturno de la PA en ambos períodos. Finalmente, el 75 por ciento y el 11,5 por ciento de los pacientes fueron dipper y non-dipper, respectivamente, en las 2 fases sólo un 13,5 por ciento de los pacientes cambió su condición. Conclusiones. La retirada de la medicación antihipertensiva en pacientes con hipertensión de grados 1 y 2 bien controlados no modifica de manera significativa la prevalencia de pacientes con descensos nocturnos de la PA (AU)