A next-generation sequencing-based strategy of searching for disease genes that are indispensable for viability of glomerular podocytes and peripheral neurons

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Peripheral neurons and glomerular podocytes are terminally differentiated cells.They are therefore susceptible to injury and associated with the occurrence of neuronal and kidney diseases.Elucidation of common biological pathway needed for these non-regenerating cells to survive will provide clues for better understanding of mechanisms underlying peripheral neuropathy and focal segmental glomerulosclerosis(FSGS).We here explored the disease genes of patients exhibiting both FSGS and Charcot-Marie-Tooth type DIE by next-generation sequencing.The results demonstrated that the patients were heterozygotes for missense mutations in inverted formin-2(INF2).These mutations were clustered in a position closer to N-terminus in compared with those reported in patients with a single disease showing FSGS alone. Expression study using culture cell is now underway to investigate how the mutations could give rise to neuron degeneration in addition to loss of podocytes.