PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new families

Purpose Biallelic hypomorphic variants in PPA2, encoding the mitochondrial inorganic pyrophosphatase 2 protein, have been recently identified in individuals presenting with sudden cardiac death, occasionally triggered by alcohol intake or a viral infection. Here we report 20 new families harboring PPA2 variants. Methods Synthesis of clinical and molecular data concerning 34 individuals harboring five previously reported PPA2 variants and 12 novel variants, 11 of which were functionally characterized. Results Among the 34 individuals, only 6 remain alive. Twenty-three died before the age of 2 years while five died between 14 and 16 years. Within these 28 cases, 15 died of sudden cardiac arrest and 13 of acute heart failure. One case was diagnosed prenatally with cardiomyopathy. Four teenagers drank alcohol before sudden cardiac arrest. Progressive neurological signs were observed in 2/6 surviving individuals. For 11 variants, recombinant PPA2 enzyme activities were significantly decreased and sensitive to temperature, compared to wild-type PPA2 enzyme activity. Conclusion We expand the clinical and mutational spectrum associated with PPA2 dysfunction. Heart failure and sudden cardiac arrest occur at various ages with inter- and intrafamilial phenotypic variability, and presentation can include progressive neurological disease. Alcohol intake can trigger cardiac arrest and should be strictly avoided

Crops that feed the world 9. Oats- a cereal crop for human and livestock feed with industrial applications

Oats are a low input cereal widely grown across the world as both a grain and forage crop. Significant areas of production are in Northern Europe and North America and also in China and Australia. Although a traditional crop in many countries, in the last 50 years there has been a significant shift in oat production as a consequence of changing agricultural production and competition from other cereal crops. Oats are of significant economic importance for human consumption, for livestock feed and increasingly as a source of high value compounds with industrial applications as a consequence of the many unique properties of the oat grain. Traditional use in human diets in many countries has been boosted by the recent recognition of oats as a health food. This is attributed to the presence of β-glucan, the major endospermic cell wall polysaccharide. As a result, there has been an increase in the use of oats and a broadening of oat based products. Increasing knowledge of the composition of the oat grain and its value for the various end-users is leading to new opportunities for the crop. While the value of oats as a break crop in cereal based rotations is widely recognised, maintaining the profitability of the crop whilst meeting the needs of end users is essential for future production. Opportunities exist for plant breeders and agronomists to introduce new oat varieties with tailored agronomic approaches to address this challenge and to ensure the sustainability of oats for the future