Analysis of haemochromatosis mutations in the North West population

Background: Hereditary haemochromatosis is a heritable disorder caused by an inborn error in the metabolism of iron. It results in over absorption of iron by the body, which can manifest clinically as fatigue, arthritis, diabetes and cardiovascular problems. The highest prevalence for the genetic mutations that cause hereditary haemochromatosis can be found in the Irish population. Individuals with diabetes may also have haemochromatosis (and vice versa), due to the bi-directional relationship between iron metabolism and glucose metabolism. Objectives: To determine the incidence of the three haemochromatosis mutations C282Y, H63D & S65C, in a population from the North West of Ireland and to investigate whether there is an increased frequency of these three mutations in a diabetic population from the same region. Method: DNA was extracted from 500 whole blood samples (250 diabetic samples and 250 ‘control’ samples) using a Wizard™ kit. PCR was conducted utilising specific primers for each mutation and in accordance with a set protocol. Following amplification, PCR product was subjected to restriction endonuclease digestion, where different restriction enzymes (Rsa I, Nde II & Hinf I) were employed to determine the HFE genotype status of samples. Results: The incidence of C282Y homozygosity (1/83) and C282Y heterozygosity (1/6) in the ‘control’ group was similar to those reported for the general Irish population (1/83 and 1/5, respectively). Incidences of H63D homozygotes and H63D heterozygotes or ‘carriers’ in the diabetic population were greater than that of the ‘control’ population. A significant finding of this study was that of an incidence of 1/32 S65C carriers in the control population. This is, to our knowledge, the highest incidence of the genotype reported to date in the general Irish population. Statistical analysis showed that there was no significant differences between the HFE genotype frequencies in the Diabetic and Control Populations. Conclusion: Results of the study concord with published literature in terms of C282Y homozygosity and C282Y heterozygosity in the general Irish population. An increased frequency of the H63D mutation in diabetic individuals was also found but was not statistically significant. The biochemical effect of the H63D mutation is still unknown. The significance of such a high incidence of S65C carriers in the ‘control’ population warrants further investigation.

Evaluation of fish pots as a feasible fishing method in Irish waters, with specific reference to the physiological effects of common and alternate pots on the lesser spotted dogfish (Scyliorhinus canicula).

Finfish pots have emerged as a “responsible” gear, when used in combination with conservational and technical measures to sustain fisheries. Previous trials in Irish waters have offered no published reported data and so three designs tested in the current study provide new information on this gear. The most successful traps in terms of fish catch were rigid steel framed rectangular pots used to target Conger eel. Although commercial yield was low (0.2 per trap haul), potential existed for a viable pot fishery. Deployment and storage of Norwegian floating pots was conducted with relative ease but performance in the water was poor resulting in loss of gear. Catch returns were notable even though effort was restricted as mega-faunal by-catch was a problem, which lead to ending this trial. From these initial trials it was evident that catch rates were low compared to established Norwegian fisheries (3.6 cod per pot), which resulted in the utilisation of pots, already established in the crustacean fishery, to find species readily accessible to pot capture. Although fished and designed differently, these gears provided an opportunity to establish the benefits of pot fishing to fish quality and to determine the effects on by-catch. The fishing effects of three catching methods (pots, angling and trawl) and the effects of air exposure on the physiological status of a common by-catch, the lesser spotted dogfish Scyliorhinus canícula (L.) were examined using a range of physiological biomarkers (plasma catecholamine, glucose, lactate, muscle pH and muscle lactate). Physiological responses of fish to an emersion stress regime resulted in a significant metabolic disturbance in groups, but may not have weakened the overall health of these fish, as signified in the revival of some metabolites. Plasma glucose and lactate concentrations did not however recovery to baseline levels indicating that to achieve an accurate profile, responses should be determined by a suite of biomarkers. Responses did not demonstrate that samples from the pots were significantly less stressed than for the other two methods; angling and trawling, which are in contrast to many other studies. Employment of finfish potting therefore in Irish waters needs further consideration before further promotion as a more responsible method to supplement or replace established techniques.