Management of patients with dental disease and mitochondrial disorders.

UNLABELLED: This case report describes dental disease associated with mitochondrial disease (Leigh's disease) in a young adult. Normal preventive dentistry is difficult in these groups of patients and often leads to management required in secondary care. An awareness of the background pathology is needed when managing these groups of patients. Management of dental pathology in this particular patient often required input from other specialties to ensure a successful outcome. CLINICAL RELEVANCE: To raise awareness of the dental pathologies patients with mitochondrial disease may experience as they present to the general dental practitioner, and what treatments may be appropriate.

Development of passive CLARITY and immunofluorescent labelling of multiple proteins in human cerebellum: understanding mechanisms of neurodegeneration in mitochondrial disease.

CLARITY enables immunofluorescent labelling and imaging of large volumes of tissue to provide a better insight into the three dimensional relationship between cellular morphology and spatial interactions between different cell types. In the current study, we optimise passive CLARITY and immunofluorescent labelling of neurons and mitochondrial proteins in mouse and human brain tissues to gain further insights into mechanisms of neurodegeneration occurring in mitochondrial disease. This is the first study to utilise human cerebellum fixed in paraformaldehyde and cryoprotected in conjunction with formalin-fixed tissues opening up further avenues for use of archived tissue. We optimised hydrogel-embedding and passive clearance of lipids from both mouse (n = 5) and human (n = 9) cerebellum as well as developing an immunofluorescent protocol that consistently labels different neuronal domains as well as blood vessels. In addition to visualising large structures, we were able to visualise mitochondrial proteins in passively cleared tissues to reveal respiratory chain deficiency associated with mitochondrial disease. We also demonstrate multiple use of tissues by stripping antibodies and re-probing the cerebellum. This technique allows interrogation of large volumes intact brain samples for better understanding of the complex pathological changes taking place in mitochondrial disease.