[Clinical manifestations of heterozygote familial hypercholesterolemia in Spain. Study of 301 cases from the central and northern areas]. / Manifestaciones clínicas de la hipercolesterolemia familiar heterozigota en España. Estudio de 301 casos de la zona centro y norte.

RATIONALE: To characterize clinical manifestations of familial hypercholesterolemia (FH) in Spain. PATIENTS AND METHODS: A group of 301 cases of FH from central and north regions of Spain. RESULTS: With a mean (SD) cholesterol level of 346 (58) mg/dl, only 7.6% of the patients have xanthomas and 20% ischaemic heart disease. 51% have a familial history of ischaemic heart disease. CONCLUSIONS: Different from the results of literature, xanthomas are very infrequent in FH in Spain, so diagnosis should be suspected from other data. The high prevalence of familial history of ischaemic heart disease supports the usefulness of this feature as a marker for diagnosis and prevention.

Identification of recurrent and novel mutations in the LDL receptor gene in Spanish patients with familial hypercholesterolemia. Mutations in brief no. 135. Online.

We used the single strand conformation polymorphism (SSCP) method to investigate 13 apparently unrelated Spanish patients with familial hypercholesterolemia (FH) for mutations in the promoter region and the 18 exons and their flanking intron sequences of the low density lipoprotein (LDL) receptor gene. We found 16 aberrant SSCP patterns, and the underlying mutations were characterized by DNA sequencing. Five novel missense mutations, Q71E, C74G, C95R, C281Y and D679E, and one nonsense mutation, Q133X, were identified. We also found six missense mutations, S156L, D200Y, D200G, E256K, T413K and C646Y, and one stop codon mutation, W(-18)X, that were previously described in patients from other populations. A new frameshift mutation, 2085del19, was found in one patient. We also identified three splicing mutations; two of them are novel mutations, 1706-10G->A and 2390-1G->A, and the other one has been reported recently, 313+1G->C. Four patients were found to carry two different mutations in the same allele: Q71E and 313+1G->C; C95R and D679E; W(-18)X and E256K, and C281Y and 1706-10G->A. Our results demonstrate that there is a broad spectrum of mutations in the LDL receptor gene in the Spanish population.

[Study of differences between the fatty acid content, several quality parameters, fatty acids and alpha tocopherol between 9 varieties of olive oil from the same plantation]. / Estudio de las diferencias entre rendimientos en contenido graso, diversos parámetros de calidad, ácidos grasos y alfa-tocoferol entre nueve variedades de olivo de la misma plantación.

The yield variations in fatty acid content, degree of acidity, peroxides, K270 and K232 indexes, the profile of the different fatty acids and alpha tocopherol were studied in different virgin olive oils obtained in the laboratory oil-mill. These different olive oils were pressed from the following olive varieties: Arbequina, Blanqueta, Empeltre, Frantoio, Hojiblanca, Manzanilla, Negral, Picual, and Royal, all of which were grown since being planted, on the same land, under the same growth conditions. The differences found must not be considered as absolute values but rather in comparative terms between the varieties. The greatest balance between the different parameters analyzed was seen in the Empeltre variety, which is that planted in greatest number in the trial area.

[Variations in fatty acids, tocopherol and other quality parameters of virgin olive oil subjected to refining process]. / Variaciones de los ácidos grasos, tocoferoles y otros parámetros de calidad de aceite de oliva virgen sometido a procesos de refino.

In the refining process of the oil, this is subjected to extreme conditions, and there is an interest in knowing the comparative variation in the contents of fatty acids, alpha tocopherol and other quality indicating parameters during the refining process carried out under the same conditions as in industry, but in the laboratory. Refined oil is a product which meets the characteristics of the food regulations, but which, due to the decrease in the alpha tocopherol content and in polyunsaturated fatty acids, has decreased some of its excellent nutritional properties. The process with the greatest influence is saponification.

[Intake of calcium and vitamin D by the Pyrenean population]. / Ingesta de calcio y vitamina D en población pirenaica.

Knowing the dietary intake of specific nutrients is a good base for planning the start of intervention methods aimed at correcting nutritional habits. Using the crude weight method, we have carried out the dietary assessment of the amounts of calcium and vitamin D ingested with the diet, in several populations of the Aragon Pyrenees. These levels are low, and this may be related to the high prevalence of disease whose etiology is directly or indirectly attributed to a calcium deficiency.

[Changes in the quality parameters of virgin olive oil from the Lower Aragon area of Teruel during the storage]. / Modificaciones de los parámetros de calidad del aceite de oliva virgen del Bajo Aragón turolense durante su almacenamiento.

Virgin olive oil from the Lower Aragon area, despite its excellent alimentary qualities, is a product which is sensitive to high temperatures and sunlight. In this work, during a 10 months storage period, a study was made of the variation in acidity, the index of peroxides, K270 and alpha-tocopherol in two olive oils, one of which was made from fresh olives by means of the traditional oil mill methods, a discontinuous method, and the other oil was obtained from pre-fermented olives by means of the modern centrifugation method, or the continuous method. These parameters were measured in both types of oil, in samples stored at room temperature (variable) and others stored at a constant temperature (20 degrees C + 1 degree C). A sub-sample of each of these was stored in the dark, and another in the presence of light. The variation of the parameters allows us to see the variation which takes place with regard to the nutritive properties of the oil ashen this is stored.

Identification of a novel mutation in exon 13 of the LDL receptor gene causing familial hypercholesterolemia in two Spanish families.

DNA from 30 unrelated Spanish patients with familial hypercholesterolemia (FH) was studied by single-strand conformation polymorphisms (SSCP)/heteroduplex analysis for mutation detection in exon 13 of low density lipoprotein (LDL) receptor gene. Two patients were found to have an abnormal pattern by heteroduplex analysis, and direct sequencing revealed a C to G substitution at nucleotide position 1965, that results in a Phe to Leu change in codon 634, F634L. We have developed a PCR based assay to detect this mutation in family members. We found three additional F634L mutation carriers, and all of them had high cholesterol levels. Haplotype analysis revealed that all F634L mutation carriers had the same allele determined by TaqI -, StuI +, AvaII +, NcoI -, suggesting the presence of a common ancestor. We report a novel mutation located in exon 13 of the LDL receptor gene that causes FH. We also demonstrate the importance of combining SSCP and heteroduplex analysis to improve mutation detection.

Two novel mutations in the LDL receptor gene: common causes of familial hypercholesterolemia in a Spanish population.

In our investigation of the LDL receptor gene in 30 Spanish patients, who were clinically diagnosed as heterozygous FH and were unrelated, we have applied single strand conformation polymorphism (SSCP) analysis and solid-phase sequencing. We identified two novel pathogenic mutations accounting for one third of the FH in this patient sample. Six patients were found to have a G to T substitution at nucleotide position 91 in exon 2 that results in a stop codon, E10X. Four patients were found to have a G deletion at nucleotide 518 in exon 4, causing a translational frameshift and a stop codon, 518delG. We have developed two polymerase chain reaction (PCR) based assays to detect easily these two mutations in all the available family members. We found fourteen E10X mutation carriers and eighteen 518delG mutation carriers. There was no statistically significant difference in mean lipid levels between carriers of these two mutations. Furthermore, haplotype analysis revealed that all E10X mutation carriers had the allele determined by TaqI-, StuI+, AvaII+, NcoI- and all 518delG mutation carriers had the haplotype TaqI-, StuI+, AvaII-, NcoI+. This indicates that both mutations may have been inherited from common ancestors, respectively.