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Juettner, R.

Publications and source records attributed to Juettner, R..

2 recordsLinked to original sources

The IgCAM CAR regulates gap junction mediated coupling on embryonic cardiomyocytes and affects their beating frequency

The IgCAM coxsackie-adenovirus receptor (CAR) is essential for embryonic heart development and for electrical conduction in the mature heart. However, it is not well-understood how CAR exerts these effects at the cellular level. To address this question, we analysed the spontaneous beating of cultured embryonic hearts and cardiomyocytes from wildtype and CAR knockout (KO) embryos. Surprisingly, in the absence of CAR, cultured cardiomyocytes showed an increased frequency of beating and calcium cycling. Increased beating of heart organ cultures was also induced by application of reagents that bind to the extracellular region of CAR, such as the adenovirus fiber knob. However, the calcium cycling machinery, including calcium extrusion via SERCA2 and NCX, was not disrupted in CAR KO cells. In contrast, CAR KO cardiomyocytes displayed an increase in the size, but decrease in total number, of membrane-localized Cx43 clusters. This was accompanied by improved cell-cell coupling between CAR KO cells, as demonstrated by increased intercellular dye diffusion. Our data indicate that CAR may modulate the localization and oligomerization of Cx43 at the plasma membrane, which could in turn influence electrical propagation between cardiomyocytes via gap junctions. Simple summaryCAR is implicated in higher-order gap junction structure by regulating clustering of connexins in embryonic cardiomyocytes. In the absence of CAR, cardiomyocytes in culture showed an increased frequency of beating and calcium cycling. Perturbation experiments suggest that CAR could be a potential new candidate in cardiac diseases.

cell biology↗

SURF1 mutations causative of Leigh syndrome impair human neurogenesis

Mutations in the mitochondrial complex IV assembly factor SURF1 represent a major cause of Leigh syndrome (LS), a rare fatal neurological disorder. SURF1-deficient animals have failed to recapitulate the neuronal pathology of human LS, hindering our understanding of the disease mechanisms. We generated induced pluripotent stem cells from LS patients carrying homozygous SURF1 mutations (SURF1 iPS) and performed biallelic correction via CRISPR/Cas9. In contrast to corrected cells, SURF1 iPS showed impaired neuronal differentiation. Aberrant bioenergetics in SURF1 iPS occurred already in neural progenitor cells (NPCs), disrupting their neurogenic potency. Cerebral organoids from SURF1 iPS were smaller and recapitulated the neurogenesis defects. Our data imply that SURF1 mutations cause a failure in the development of maturing neurons. Using NPC function as an interventional target, we identified SURF1 gene augmentation as a potential strategy for restoring neurogenesis in LS patients carrying SURF1 mutations.

neuroscience↗