Apolipoprotein-E genotype and Alzheimer's disease in a post mortem series

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Alzheimer's disease and apolipoprotein E genotype in Western Australia: An autopsy-verified series

OBJECTIVE: To determine the relationship between the apolipoprotein E epsilon 4 allele and autopsy-verified Alzheimer's disease (AD) in an Australian population. DESIGN: Retrospective case-control study. SETTING: Royal Perth Hospital, Perth, Western Australia (a tertiary referral hospital). SUBJECTS: 50 subjects with "definite" AD (according to the histological and clinical criteria of the Consortium to Establish a Registry for Alzheimer's Disease [CERAD]) and 30 control subjects who had died from a non-neurological disease were randomly selected from the hospital's neuropathology register. OUTCOME MEASURES: Histological grading of brain sections stained with the modified Bielschowsky stain according to the criteria of CERAD; number (burden) of neuritic plaques; apolipoprotein E genotype (APOE). RESULTS: Frequency of the epsilon 4 allele was significantly higher in the AD group (37%) than in the control group (2%) (chi 2 = 25.8; P < 0.00001). In the AD group, 50% of subjects were heterozygous for the epsilon 4 allele and 12% were homozygous, while in the control group one subject was heterozygous for the allele and none were homozygous. No association was seen between the epsilon 4 allele and neuritic plaque burden in the hippocampus, entorhinal cortex, middle frontal gyrus or inferior parietal lobule in subjects with AD. CONCLUSIONS: Our findings confirm an association between the epsilon 4 allele and autopsy-verified AD. The epsilon 4 allele may be an important risk factor for susceptibility to AD in the general Australian population

Three novel mutations and two variants in the gene for Cu/Zn superoxide dismutase in familial amyotrophic lateral sclerosis

Autosomal dominant inheritance is exhibited by about 10% of cases of amyotrophic lateral sclerosis (ALS), a paralytic disorder characterized by death of motor neurons in the brain and spinal cord. A subgroup of these familial cases are linked to mutations in the gene which codes for Cu/Zn superoxide dismutase (SOD1). We report three additional mutations occurring in the SOD1 gene in ALS patients and two single base pair variant changes. The single base pair change in an ALS family causes a glycine 93 to valine substitution, which is the fifth distinct amino acid change reported for the glycine 93 residue. One missense mutation in exon 5 would substitute neutral valine for the negatively-charged aspartate 124 (aspartate 124 to valine). An individual with an apparently sporadic case of ALS carries a three base pair deletion in exon 5 of the SOD1 gene. These three mutations bring to 38 the total number of distinct SOD1 mutations associated with familial ALS

Determination of the chemical composition and functional properties of shrimp waste protein concentrate and lyophilized flour Determinação da composição química e das propriedades funcionais de concentrado protéico e de farinha liofilizada de resíduos de camarão

Wastes from the seafood industry can be easily processed into products with new forms of use. The present study was aimed at determining the chemical composition and functional properties of shrimp waste protein concentrate and lyophilized flour. The raw material used in this study consisted of waste (head) of Litopenaeus vannamei. The protein concentrate was obtained by ethanolic extraction, being subsequently submitted to drying in oven at 70° C, while the flour was obtained by lyophilization of shrimp wastes. Moisture, ash, protein and calcium contents showed significant difference between fresh shrimp head waste samples (IN) and protein concentrate and lyophilized flour samples. The protein content for protein concentrate (PC) and lyophilized flour (LF) showed significant increase in relation to protein content in the waste (IN), thus showing that the process for obtaining the protein concentrate was efficient.<br>Resíduos provenientes da indústria do pescado podem ser facilmente transformados em produtos com novas formas de aproveitamento. No presente estudo, objetivou-se determinar a composição química e as propriedades funcionais de farinha liofilizada e concentrado proteico provenientes de resíduos de camarão. A matéria-prima empregada neste estudo foi constituída de resíduos (cabeça) de camarão Litopenaeus vannamei. O concentrado proteico foi obtido por extração etanólica e, posteriormente, submetido à secagem em estufa a 70° C, enquanto a farinha foi obtida pelo processo de liofilização do resíduo. Os teores de umidade, cinzas, proteínas e cálcio apresentaram diferença significativa entre as amostras de resíduo de cabeça de camarão in natura (IN) e as amostras de concentrado proteico e farinha liofilizada. O teor de proteínas para concentrado protéico (CP) e para a farinha liofilizada (FL) apresentou aumento significativo em relação ao teor proteico do resíduo (IN), mostrando, assim, que o processo de elaboração do concentrado proteico foi eficiente