We present a 56-year-old patient suffering from frontotemporal dementia with parkinsonism linked to chromosome 17 (FTDP-17). The history included a three-generation pedigree and the patient was found to be a mutation carrier. The diagnosis was hindered by late appearance of the hypokinetic movement disorder. For clinicians, it is important to consider rare neurodegenerative disease variants in early-onset familial dementia syndromes with behavioral, cognitive, and motor symptoms

Population studies have become important tools in conservation biology and genetic analyses are used to investigate genetic diversity within and among populations. Genetic variation can help improve fitness and ecological resilience. However, knowledge about genetic diversity is scarce for most wild species in Sweden. Insight in genetic population structure, can help us understand a species ́ ecological traits and improve species conservation. Fungi are fundamental components in terrestrial ecosystems, yet they have gotten little attention in conservatory work in Europe. In my bachelor thesis, by a short literature review and GIS- analysis of species occurrence data, I have developed a sampling scheme for a conservatory, genetic population study of the threatened pig’s ear mushroom, Gomphus clavatus. The population study aims to investigate genetic structures of the pig’s ear mushroom, in Sweden and surrounding countries. I collected occurrence data from nine countries and processed a total of 3232 findings, which were all compiled in Arcmap. A preliminary selection of localities in Sweden was made through identifying around twenty localities with recent findings, in protected areas. Eight localities of particular interest were included in the selection, one location with findings of morphologically divergent specimens were among those localities. For the surrounding countries, the preliminary selection included localities with findings reported between years 2015–2020. In my literature review, previous studies were not comparable in a way that could guide the design of a sampling scheme for the pig ́s ear mushroom. For clonal species, one should prioritize the total number of localities rather than the number of samples per site, and vice versa for sexually reproducing species. Since the pig ́s ear mushroom belongs in both groups, I suggest a combination of higher density sampling efforts at two localities, together with single sampling at a greater number of geographically distributed localities.

Die Dermatitis digitalis (DD) ist eine weltweit verbreitete infektiöse Klauenerkrankung mit negativem Einfluss auf das Wohlbefinden und die Leistung von Milchrindern. Durch die multifaktoriell bedingte Ätiologie und die unterschiedlichen klinischen Erscheinungsformen gestaltet sich die Therapie und Prophylaxe der Erkrankung als schwierig. Schätzungen für Erblichkeiten im moderaten Bereich und die Identifizierung von verschiedenen Kuhtypen hinsichtlich der Anfälligkeit für DD unterstreichen die mögliche Beteiligung von wirtseigenen genetischen Faktoren an der Entstehung der Erkrankung. Unter Anwendung einer intensiven Phänotypisierung DD-betroffener Tiere wurden im Rahmen dieser Arbeit genetisch bedingte Hintergründe der Erkrankung untersucht, Erblichkeiten berechnet und eine Zuchtwertschätzung für DD entwickelt. Zudem war beabsichtigt über eine genomweite Assoziationsstudie (GWAS) relevante chromosomale Bereiche, Kandidatengene und funktionelle Gengruppen für Merkmale, die die Anfälligkeit und den Verlauf der Erkrankung beschreiben, zu identifizieren. Die Ergebnisse der vorliegenden Arbeit liefern neue Erkenntnisse hinsichtlich einer züchterischen sowie genomischen Bearbeitung der DD des Holstein-Rindes. Dabei stellt die Nutzung von Phänotypen aus der wiederholten Einstufung von Kühen mittels M-Stadien-Klassifizierungssystem eine Innovation gegenüber der bisherigen Zuchtwertschätzung für Klauenerkrankungen dar. Insgesamt bestätigen die Ergebnisse eine bereits angenommene polygenetische Beeinflussung der DD beim Holstein-Rind. Eine gezielte züchterische Bearbeitung sollte flächendeckend und ergänzend zu allgemeinen Präventions- und therapeutischen Maßnahmen eingesetzt werden.

Background: There is growing evidence that genetic variants have an impact on the pathogenesis of intracranial aneurysm (IA). Recently, the genetic locus around the elastin gene (7q11) has been identified as linked to IA in a Japanese population. Our aim was to confirm these results in Caucasian populations. Methods: We conducted a case-control study in 120 Caucasian patients with IA and 172 controls to investigate 8 single nucleotide polymorphisms (SNPs) and various haplotypes within the elastin gene, which were frequently found and associated with the phenotype in the Japanese populations. Real-time PCR and melting curve analysis were used for the detection of genotypes. Results: Allele frequencies and genotypes were equally distributed between Caucasian cases and controls. We failed to identify haplotypes that are associated with the phenotype in our population, which is in contrast to the Japanese study. However, allele frequencies in control populations differ between Caucasians and Japanese. Conclusions: We found no association between SNPs and haplotypes of the elastin gene and the occurrence of IA in our Caucasian populations. However, our data provide strong evidence for racial/ethnic differences in the association of SNP and specific haplotypes of the elastin gene with the phenotype. There might be other genetic variants of the elastin gene associated with IA in Caucasians. / Dieser Beitrag ist mit Zustimmung des Rechteinhabers aufgrund einer (DFG-geförderten) Allianz- bzw. Nationallizenz frei zugänglich.

Background: Vascular remodeling generated by reactive oxygen species contributes to aneurysm formation. The NADPH oxidase system is a major source of superoxide anion not only in phagocytes, but also in endothelial and vascular smooth muscle cells. Polymorphisms of p22phox, an essential component of the NADPH oxidase system, are found to be associated with atherosclerosis, while a recent study found a significant association between the 214C>T polymorphism and the occurrence of ischemic cerebrovascular disease. We conducted a case-control study to investigate the relationship of five polymorphisms of the p22phox gene and the occurrence of cerebral aneurysms. Methods: The study population consisted of 113 patients with intracranial aneurysms and 53 control subjects. The 214C>T polymorphism was investigated by restriction fragment length polymorphism analysis, while polymorphisms 381T>C, 480G>A, 521C>T, and *24A>G were analyzed by direct sequencing of exon 6 and adjacent intronic sequences. Results: The analysis of a primary study sample comprising 35 cases and 28 controls failed to show a significant association between any of the five polymorphisms and the occurrence of intracranial aneurysms using both allele frequencies and genotypes (all nominal p > 0.05). Although there was a deviation from Hardy-Weinberg equilibrium in cases at the 521C>T locus (nominal p < 0.05), this could not be confirmed in a second study sample of 78 patients. Haplotypes were constructed regarding three frequent polymorphisms (214C>T, 521C>T, and *24A>G); haplotype frequencies in cases and controls were not significantly different. Conclusion: Although polymorphisms of the p22phox gene located in the coding region and the 3′-untranslated region were reported to be associated with atherosclerosis and cerebrovascular disease, our data provide evidence that there is no association between these polymorphisms and the occurrence of cerebral aneurysms in Caucasians. / Dieser Beitrag ist mit Zustimmung des Rechteinhabers aufgrund einer (DFG-geförderten) Allianz- bzw. Nationallizenz frei zugänglich.

Schizophrenia is a severe psychiatric disorder associated with cognitive impairments. Polygenic risk for schizophrenia (SCZ-PGR) has been associated with poor performance in cognitive tasks, both in patients and in healthy individuals. It has also been suggested that schizophrenia is associated with accelerated aging. This study examines the association between SCZ-PGR and accelerated non-pathological cognitive aging by performing longitudinal analyses using linear mixed-effects models. We hypothesize that higher SCZ-PGR is associated with accelerated rate of cognitive decline in healthy elderly. The study sample consist of 1746 Caucasian individuals with genetic data. Their performance in general cognition, episodic memory, semantic memory and visuospatial memory was tested over 25 years. SCZ-PGR was significantly associated with poor cognitive function but was not associated with cognitive decline over time with any of the cognitive domains. Our results indicate that genetics of schizophrenia may not be associated with rate of cognitive aging. / Schizofreni är en svår psykiatrisk sjukdom som är associerad med kognitiv nedsättning. Polygenetisk risk för schizofreni (SCZ-PGR) har associerats med sämre resultat på kognitiva test, både hos schizofrenipatienter och friska individer. Det har även föreslagits att schizofreni är associerad med accelererat åldrande. Denna studie avser undersöka associationen mellan SCZPGR och accelererad icke-patologisk kognitivt åldrande genom att genomföra longitudinella analyser i lineära mixade-effekt-modeller. Vår hypotes är att högre SCZ-PGR är associerad med accelererad kognitivt åldrande hos friska. I denna studie ingår 1746 deltagare, där deltagarnas kognitiva förmåga testades under 25 år. Vi analyserade deras SCZ-PGR i relation till generell kognitiv förmåga, episodminne, semantiskt minne och visuo-spatialt minne, samt associationen mellan SCZ-PGR och förändringen av dessa variabler över tid. SCZ-PGR var signifikant associerad med sämre kognitiv förmåga, men inte med kognitiv försämring över tid. Dessa resultat indikerar att gener relaterade till schizofreni inte är associerade till kognitivt åldrande.

Die Anpassung des Zellwachstums eukaryotischer und prokaryotischer Zellen an sich ändernde intra- und extrazelluläre Signale wie Nährstoffverfügbarkeit, Wachstumsfaktoren und dem zellulären Energielevel bedarf eines effektiven Regulationssystems. In Säugern übernimmt der TSC-Komplex als negativer Regulator des TOR-Signalweges eine wichtige Rolle bei der Regulation des Zellwachstums. In S. pombe ist der TSC-Komplex konserviert. Zudem existieren Homologe der Untereinheiten der AMPK, welche in Säugern den TSC-Komplex positiv regulieren. In der vorliegenden Arbeit konnte die Existenz von zwei funktionell getrennten AMPK-Komplexen nachgewiesen werden: AMPK I, bestehend aus Ssp2, SPCC1919.03c und Cbs2 und AMPK II, bestehend aus Ppk9, SPCC1919.03c und Cbs2. Genetische Daten lassen eine Beteiligung von AMPK I an der Regulation der sexuellen Differenzierung, der Adaption an osmotischen Stress und der Verwertung nicht-fermentierbarer Kohlenstoffquellen vermuten. AMPK II scheint für die Adaption an Cadmiumstress wichtig zu sein.In der vorliegenden Arbeit wurde weiterhin die Beteiligung der beiden AMPK alpha-Isoformen am TSC/Rhb1/TOR-Signalweg in S. pombe näher untersucht. Dabei deutete sich an, dass Ppk9 und der TSC-Komplex weder synergistische noch antagonistische Funktionen in der Zelle ausüben. Im Gegensatz dazu scheinen Ssp2 und die TSC-Proteine antagonistische Funktionen auszuüben. Einige Wachstumsdefekte der ssp2 -Deletionsmutanten können durch eine Hyperaktivierung des TSC/Rhb1/TOR-Signalweges supprimiert werden. Die Deletion von ssp2 führt zu einer Suppression des Wachstumsdefektes von Leucin-auxotrophen tsc-Mutanten. Diese Beobachtung erlaubt die Einordnung von Ssp2 in einem zum TSC/Rhb1/TOR-Weg parallelen Signalweg. Im Gegensatz zu Säugern scheinen in S. pombe TSC/Rhb1/TORC1 und Ssp2 einen gemeinsamen Effektor unabhängig voneinander zu regulieren, um verschiedene Wachstumsbedingungen miteinander zu integrieren und das Zellwachstum entsprechend anzupassen.

Strategic management is crucial for organizational success in today's volatile business environment, and yet, underutilized within agricultural businesses. The agricultural industry is facing rapid change with the introduction of new GM technologies, such as CRISPR-Cas9, and following regulations. Although these technologies have the potential to provide farmers with improved crops containing desired traits, excessive regulations and obstacles hinder its implementation in European agricultural practices. If the upcoming decision regarding CRISPR-Cas9 allows the technology to not be treated under GMO regulations, European agriculture is faced with a major opportunity. However, as procedures are unexplored, organizations are left unprepared.   This study investigates the optimal strategic planning approach for Swedish agricultural businesses wanting to efficiently implement new technologies and adjust to regulatory changes. The research is based on a qualitative study that incorporates deductive methodology. It follows a multiple case study research design with eight semi-structured interviews from six Swedish and American case companies as the primary data collection method. By taking inspiration from experienced companies’ planning strategies and including European values, Swedish agricultural companies wanting to implement CRISPR-Cas9 can efficiently navigate changes within the industry while maintaining a competitive advantage. A simple model combining parts from short- and long-term planning frameworks with communication and value creation can guide companies entering the upcoming field.

The molecular mechanism of complementary sex determination in the haplodiploid organisms is poorly understood and has only been described in the honeybee Apis mellifera. In the haplodiploid system, males develop from unfertilized eggs and females from fertilized eggs. However, in some rare cases, diploid males develop from fertilized eggs. They can be distinguished from diploid and haploid males at the molecular level since they are heterozygous like females but are homozygous, like haploid males, at the sex determination locus. In this project, Osmia bicornis was chosen as the model organism, and the aim is to identify the complementary sex determination locus which should be homozygous in all diploid males. Bee nests were collected from the bees' natural habitat, and potential diploid males were identified. Data analysis of whole-genome sequencing on 17 potential diploid males was performed, which identified 80 candidate sex determination loci with 259 genes. Homologs of the Csd gene in A. mellifera were identified but not found in any candidate complementary sex determination loci.

De senaste årens forskning har tydligt visat på elevers svårigheter att utveckla begreppsförståelse inom ämnesområdet genetik. I denna studie har jag valt att intervjua lärare i några svenska gymnasieskolor för att undersöka om de identifierar samma problem med genetikundervisningen som finns dokumenterade i forskningslitteraturen samt hur de arbetar för att eleverna skall nå uppsatta kunskapsmål. De intervjuade lärarna bekräftar samtliga av de huvudproblem som forskningslitteraturen utpekar. Eleverna har svårt att utveckla begreppsförståelse inom den grundläggande genetiken. Detta leder bland annat till en mycket begränsad förmåga att, på basis av genetisk kunskap, ta ställning i frågor som rör gentekniska metoders tillämpningar. Avslutningsvis diskuteras möjligheterna att använda formativ utvärdering och att arbeta med autentiska problem för hjälpa och motivera eleverna.