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KCNQ1 encodes the voltage-gated potassium (Kv) channel KCNQ1, also known as KvLQT1 or Kv7.1. Together with its ß-subunit KCNE1, also denoted as minK, this channel generates the slowly activating cardiac delayed rectifier current IKs, which is a key regulator of the heart rate dependent adaptation of the cardiac action potential duration (APD). Loss-of-function mutations in KCNQ1 cause congenital long QT1 (LQT1) syndrome, characterized by a delayed cardiac repolarization and a prolonged QT interval in the surface electrocardiogram. Autosomal dominant loss-of-function mutations in KCNQ1 result in long QT syndrome, called Romano–Ward Syndrome (RWS), while autosomal recessive mutations lead to Jervell and Lange-Nielsen syndrome (JLNS), associated with deafness. Here, we identified a homozygous KCNQ1 mutation, c.1892_1893insC (p.P631fs*20), in a patient with an isolated LQT syndrome (LQTS) without hearing loss. Nevertheless, the inheritance trait is autosomal recessive, with heterozygous family members being asymptomatic. The results of the electrophysiological characterization of the mutant, using voltage-clamp recordings in Xenopus laevis oocytes, are in agreement with an autosomal recessive disorder, since the IKs reduction was only observed in homomeric mutants, but not in heteromeric IKs channel complexes containing wild-type channel subunits. We found that KCNE1 rescues the KCNQ1 loss-of-function in mutant IKs channel complexes when they contain wild-type KCNQ1 subunits, as found in the heterozygous state. Action potential modellings confirmed that the recessive c.1892_1893insC LQT1 mutation only affects the APD of homozygous mutation carriers. Thus, our study provides the molecular mechanism for an atypical autosomal recessive LQT trait that lacks hearing impairment.
Taking her cue from Margo de Mello's "Teaching the Animal", Maria Moss employs a hands-on, didactic approach to teaching human-animal studies (THAS), introducing texts that she has used in her seminars in the past - from philosophical background materials and sociological surveys to novels, short stories, and poems. In her article, "'The skin and fur on your shoulders': Teaching the Animal Turn in Literature," Moss uses texts that "look at the animals from inside out," ending with a discussion of SF and chimp fiction. From James Lever's "Me Cheetah" to George Saunders's story "Fox 8", she focuses on animal agency within the narrative form, presenting texts that feature animals as narrators. Once we acknowledge that notions of language, cognition, and thinking about the future are no longer limited to human narrators and that "storying" is no longer specific to humans, Moss writes, interspecies storied imaginings mark one possible alternative to the long history of human dominance and exceptionalism - not just in life, but in literature, too.
In light of the dramatic growth and rapid institutionalization of human-animal studies in recent years, it is somewhat surprising that only a small number of publications have proposed practical and theoretical approaches to teaching in this inter- and transdisciplinary field. Featuring eleven original pedagogical interventions from the social sciences and the humanities as well as an epilogue from ecofeminist critic Greta Gaard, the present volume addresses this gap and responds to the demand by both educators and students for pedagogies appropriate for dealing with environmental crises. The theoretical and practical contributions collected here describe new ways of teaching human-animal studies in different educational settings and institutional contexts, suggesting how learners - equipped with key concepts such as agency or relationality - can develop empathy and ethical regard for the more-than-human world and especially nonhuman animals. As the contributors to this volume show, these cognitive and affective goals can be achieved in many curricula in secondary and tertiary education. By providing learners with the tools to challenge human exceptionalism in its various guises and related patterns of domination and exploitation in and outside the classroom, these interventions also contribute to a much-needed transformation not only of today's educational systems but of society as a whole. This volume is an invitation to beginners and experienced instructors alike, an invitation to (re)consider how we teach human-animal studies and how we could and should prepare learners for an uncertain future in, ideally, a more egalitarian and just multispecies world.