Molecular bases of mitochondrial disorders

Maintaining the health of human population depends on integrative strategies, which include both prevention and therapeutics. A detailed understanding processes reactions occurring in our bodies cells, especially at molecular level, is a prerequisite to links between disease dysfunctions mechanisms regulating (inter)cellular processes, design successful therapies against diseases. Mitochondria host diverse metabolic pathways are key cellular energy conversion. Therefore, they considered ‘power houses’ eukaryotic cells. In addition these central functions, we beginning appreciate that mitochondria also signaling hubs deeply integrated into communication [[1, 2]]. Given broad importance for homeostasis, it not surprising have been directly or indirectly linked plethora disorders. Among large group mitochondrial disorders caused by dysfunction. Such mostly present with neuromuscular neurocardiac phenotypes [[3-5]]. However, little understood about what connects responses observed diseased cells patients. This special issue FEBS Letters entitled ‘Molecular bases disorders’ showcases eleven reviews view current how connected physiology their dysfunction Most functions executed proteins, dual genetic origin. The proteome this important compartments consists proteins nuclear-encoded synthesized cytosolic ribosomes, small amount mitochondrial-encoded translated within mitochondria. genome codifies 2 rRNAs, 22 tRNAs, 11 mRNAs, give rise thirteen polypeptides. All constituents oxidative phosphorylation system (OXPHOS) inner membrane thus supply. Approximately quarter dedicated maintenance expression thereby contributes ability carry out ATP production. order form functional enzyme complexes OXPHOS, need engage structural subunits imported from cytosol. regard, four address gene assembly OXPHOS context Filograna et al. al discuss knowledge copy number DNA molecules different diseases, such as disorders, neurodegenerative cancer, well aging process [[6]]. Richter focus tRNA variants affected diseases [[7]]. ribosome its addressed review Ferrari [[8]]. An article Fernandez-Vizarra provides account history views clinical pathology [[9]]. respond physiological needs cell, must be dynamic plastic terms structure proteome. Hence, protein homeostasis represents regulatory switchboard integrating function communication. context, learned import can modulated through does indeed efficiency influx cytosol various levels, including transcription translation [[10-12]]. would possible without an amazing progress technology has paved way ‘omics’ approaches. These technologies do only deepen biology but provide better pathology, general manner personalized manner. interesting example new sequencing broadened identification patients mutations transport machinery subunits, mediate Interestingly, while was long defects translocase compatible life based evidence provided model organisms, increasing identified recent years [[13]]. raises exciting questions organismal allow deal deficiencies pathological context. addition, shows technical approaches define cause Along lines, Gusic highlights genetics underlying [[14]]. intimately ultrastructure. located cristae membrane. organization generation proton gradient drives synthesis. return, participate shaping We understand lipid biogenesis machineries cooperate organizing membranes. Yet, player MICOS complex, required region high curvature boundary membrane, referred junction, attain characteristic shape. topic heart Mukherjee al., who shaped complex [[15]]. Of similar network dynamics. undergo constant fission fusion processes; allows remodel response challenges external insults. Yapa describes dynamics dysregulation leads [[16]]. supplying developed elaborated quality control systems surveille react status On one hand, relates adaptation and, other [[17]]. Gomez-Fabra proteases (dys)function [[18]], Krämer highlight role proteolytic precursor [[19]]. Remarkably, whole. elaborate strongly regulated evolved ensure non- subfunctional disposed mitophagy, autophagy pathways. alterations reviewed Onishi Okamoto [[20]]. authors whereby intertwined overall plasticity cell summary, insights basic features mitochondria, function, form, integration, critical cell’s physiology, all contribute age-related degenerative cancer. Accordingly, research pathologic will remain so come. Agnieszka Chacinska professor University Warsaw director newly established institute Polish Academy Sciences (PAS), International Institute Molecular Mechanisms Machines. She received her PhD Biochemistry Biophysics PAS postdoctoral training, followed leader position Freiburg (Germany). 2009, she Laboratory Mitochondrial Biogenesis Cell Biology Warsaw. moved 2017. member Sciences, EMBO, Academia Europaea. Her concerns disease. Peter Rehling Department Cellular Medical Center Göttingen fellow Max-Planck Biophysical Chemistry Göttingen. He studied chemistry Ruhr-University Bochum (Germany), where he his Ph.D. worked trafficking researcher Howard Hughes Institute, California, San Diego (USA). then joined independent researcher, focused processes. German (Leopoldina) His focuses transport.