The eating quality of M. longissimus dorsi (LD) from RN(-) homozygotes, RN(-) heterozygotes and RN(-) non-carriers was investigated in a Swedish Hampshire×Finnish Landrace pig population. The recently identified new allele (V199I, here denoted rn*) at the RN locus was also detected among the pigs selected and included in the sensory evaluation. The number of animals varied from 10 to 15 in the five genotype groups; RN(-)/RN(-), RN(-)/rn+, RN(-)/rn*, rn+/rn+ and rn+/rn* (in total 59 pigs). In addition, one pig was determined to be rn*/rn* but was excluded from the analysis. The three genotypes in which the RN(-) allele was represented (RN(-)/RN(-), RN(-)/rn+ and RN(-)/rn*) had higher glycogen and lower protein contents as well as lower ultimate pH (measured 48 h post-mortem) in LD than the non-carriers (rn+/rn+ and rn+rn*). Of the sensory parameters evaluated (tenderness, chewing time, chewing residual, juiciness, meat flavour and acidity), the five RN genotypes only affected acidity significantly; the RN(-) allele contributing to a more acid taste in LD. The influence of the rn* allele resembled that of rn+ on the sensory parameters. When the material was divided into three groups (homozygous, heterozygous and non-carriers of the RN(-) allele) the juiciness was found to be significantly influenced by RN genotype, and LD from animals that were homozygous and heterozygous with respect to the RN(-) allele exhibited a higher juiciness than LD from non-carriers. The RN(-) allele also tended to contribute to greater tenderness, which was significantly higher in LD from heterozygous carriers than from non-carriers of the RN(-) allele. A more rapid decline in pH (measured as pH at 45 min and 3 h post-mortem) contributed to a greater tenderness in LD (according to a trained panel and Warner-Bratzler shear force). In addition to the RN genotype, the decline in pH was influenced by carcass weight, which varied between 71 and 97 kg, and by stunning procedure, which changed during the course of the study from individual to group stunning with CO(2). The individual stunning procedure contributed to a lower pH in the initial post-mortem phase (pH(45)), whereas a higher carcass weight and the RN(-) allele lowered the pH in the mid-post-mortem region (pH(3h) and pH(24h)), significantly (P⩽0.05). The pH continued to decline after 24 h post-mortem and the ultimate pH was not reached until 48 h post-mortem. The cooking loss, juiciness and acidity were related to the specific characteristics of the RN(-) carriers, such as higher glycogen content, lower protein content and lower ultimate pH (pH(48h)).
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http://dx.doi.org/10.1016/S0309-1740(03)00056-1 | DOI Listing |
Cancer Med
December 2024
Niguarda Hospital, Department of Hematology and Oncology, Milano, Italy.
Background: Despite recurrent and activating mutations, including MYD88, CXCR4, ARID1A, KMT2D, and CD79B were identified, the genetic basis for Waldenström's Macroglobulinemia (WM) and the risk of progression of IgM MGUS to WM remain to be fully elucidated.
Methods: We investigated the mutation status of WM (n = 8), sWM (n = 7), and IgM MGUS (n = 5) patients, by performing high-throughput targeted AmpliSeq NGS on 117 target genes. Specifically, we analyzed the CD19+ cells from 15 WM/sWM patients and five IgM MGUS patients.
Sci Rep
November 2024
Center of Oncology Research, Federal University of Pará (UFPA), Belém, 66073- 005, PA, Brazil.
Despite all the efforts acquired in four years of the COVID-19 pandemic, the path to a full understanding of the biological mechanisms involved in this disease remains complex. This is partly due to a combination of factors, including the inherent characteristics of the infection, socio-environmental elements, and the variations observed within both the viral and the human genomes. Thus, this study aimed to investigate the correlation between genetic host factors and the severity of COVID-19.
View Article and Find Full Text PDFClin Epigenetics
October 2024
Genomic Medicine Laboratory UILDM, IRCCS Santa Lucia Foundation, Via Ardeatina 306-354, 00179, Rome, Italy.
medRxiv
October 2024
Department of Medicine, Division of Nephrology, Columbia University, College of Physicians & Surgeons, New York, NY, USA.
Proc Natl Acad Sci U S A
October 2024
Division of Molecular and Cellular Oncology, Department of Medical Oncology, Dana-Farber Cancer Institute, Harvard Medical School, Boston, MA 02215.
Loss-of-function germline () tumor suppressor mutations cause VHL disease, which predisposes individuals to kidney cancer, hemangioblastomas, and paragangliomas. The risk that a given VHL disease family will manifest some or all these tumor types is profoundly influenced by the allele it carries. For example, almost all VHL disease families that develop paraganglioma have missense mutations.
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