The effect of supplementing a basal diet with 1 of 3 plant oils on productive efficiency and milk fatty acid composition was studied in dairy goats. Sixteen Malagueña goats were used in a 4×4 Latin square experiment with 21-d periods and 4 goats per treatment. The basal diet comprised 30% alfalfa hay and 70% pelleted concentrate. Experimental treatments were control (basal diet without added oil) and the basal diet supplemented with 48g/d of high oleic sunflower oil (HOSFO), regular sunflower oil (RSFO), or linseed oil (LO). Dry matter intake and body weight were not affected by treatments. Milk production was higher in HOSFO treatment and milk fat content was higher in RSFO and LO treatments, although no differences in milk energy production or milk renneting properties were found. The RSFO and LO treatments increased the proportion of vaccenic acid in milk fat more so than the HOSFO diet, and rumenic acid followed the same pattern. The content of trans10-18:1 remained low in all experimental diets (<0.7% of total fatty acid methyl esters) although HOSFO and RSFO diets increased it. The variations in the fatty acid profiles observed with the 4 diets, mainly the unsaturated fatty acid isomer contents, are extensively discussed. Compared with that in the control diet, the n-6:n-3 fatty acid ratio in milk fat substantially decreased with the LO, increased with RSFO, and did not change with HOSFO. The addition of moderate amounts of LO to the diets of dairy goats has favorable effects on milk fatty acid composition from the point of view of the human consumer, without negative effects on animal performance.

In this work, the effects of increasing amounts of 3 plant oils in diets on the fatty acid (FA) profile of goat milk were studied. The study consisted of 3 experiments, one per oil tested (linseed oil, LO; high oleic sunflower oil, HOSFO; and regular sunflower oil, RSFO). The 3 experiments were conducted successively on 12 Malagueña goats, which were assigned at random to 1 of 4 treatments: 0, 30, 48, and 66 (H) g of added oil/d. A basal diet made of alfalfa hay and pelleted concentrate (33:67) was used in all of the experiments. For each animal, milk samples collected after 15 d on treatments were analyzed for fat, protein, lactose, and FA composition, whereas individual milk yield was measured the last 3 d of each experiment. Oil supplementation affected neither dry matter intake nor milk production traits. Increasing the oil supplementation decreased the content of saturated FA (especially 16:0) in milk fat and increased mono- and polyunsaturated FA in a linear manner. Vaccenic acid content linearly increased with the oil supplementation by 370, 217, and 634% to 5.32, 2.66, and 5.09 g/100 g of total FA methyl esters with the H diet in LO, HOSFO, and RSFO experiments, respectively. Rumenic acid content linearly increased with LO and RSFO supplementation by 298 and 354% from 0.53 and 0.41 g/100 g of total FA methyl esters with the 0 g of added oil/d diet. The content of trans-10-18:1 was not affected by LO supplementation but showed an increasing linear trend with HOSFO supplementation and linearly increased with RSFO supplementation. The ratio of n-6 to n-3 polyunsaturated FA in milk fat was decreased by about 70% with the H diet in the LO experiment and it was increased by 54 and 82% with the H diet in the HOSFO and RSFO experiments. In conclusion, LO supplementation in this work seemed to be the most favorable alternative compared with HOSFO or RSFO supplementation.

No abstract

To investigate the role of integrin alpha 7 in muscle pathology, we used a "candidate gene" approach in a large cohort of muscular dystrophy/myopathy patients. Antibodies against the intracellular domain of the integrin alpha 7A and alpha 7B were used to stain muscle biopsies from 210 patients with muscular dystrophy/myopathy of unknown etiology. Levels of alpha 7A and alpha 7B integrin were found to be decreased in 35 of 210 patients (approximately 17%). In six of these patients no integrin alpha 7B was detected. Screening for alpha 7B mutation in 30 of 35 patients detected only one integrin alpha 7 missense mutation (the mutation on the second allele was not found) in a patient presenting with a congenital muscular dystrophy-like phenotype. No integrin alpha 7 gene mutations were identified in all of the other patients showing integrin alpha 7 deficiency. In the process of mutation analysis, we identified a novel integrin alpha 7 isoform presenting 72-bp deletion. This isoform results from a partial deletion of exon 21 due to the use of a cryptic splice site generated by a G to A missense mutation at nucleotide position 2644 in integrin alpha 7 cDNA. This spliced isoform is present in about 12% of the chromosomes studied. We conclude that secondary integrin alpha 7 deficiency is rather common in muscular dystrophy/myopathy of unknown etiology, emphasizing the multiple mechanisms that may modulate integrin function and stability.

Complete laminin alpha2 (LAMA2) deficiency causes approximately half of congenital muscular dystrophy (CMD) cases. Many loss-of-function mutations have been reported in these severe, neonatal-onset patients, but only single missense mutations have been found in milder CMD with partial laminin alpha2 deficiency. Here, we studied nine patients diagnosed with CMD who showed abnormal white-matter signal at brain MRI and partial deficiency of laminin alpha2 on immunofluorescence of muscle biopsy. We screened the entire 9.5 kb laminin alpha2 mRNA from patient muscle biopsy by direct capillary automated sequencing, single strand conformational polymorphism (SSCP), or denaturing high performance liquid chromatography (DHPLC) of overlapping RT-PCR products followed by direct sequencing of heteroduplexes. We identified laminin alpha2 sequence changes in six of nine CMD patients. Each of the gene changes identified, except one, was novel, including three missense changes and two splice-site mutations. The finding of partial laminin alpha2 deficiency by immunostaining is not specific for laminin alpha2 gene mutation carriers, with only two patients (22%) showing clear causative mutations, and an additional three patients (33%) showing possible mutations. The clinical presentation and disease progression was homogeneous in the laminin alpha2-mutation positive and negative CMD patients.