Research Project
Grant-in-Aid for Challenging Exploratory Research
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.
All 2014 2013 2012 Other
All Journal Article (10 results) (of which Peer Reviewed: 4 results) Presentation (20 results) (of which Invited: 5 results) Book (3 results) Remarks (4 results)
腎と透析
Volume: 76巻6号 Pages: 801-810
Volume: 76巻6号
J Peripher Nerv Syst
Volume: 18(1) Pages: 97-98
日内会誌
Volume: 102 Pages: 1220-1222
J Peripher Nerv Syst.
Volume: 18(1) Issue: 1 Pages: 97-98
10.1111/jns5.12014
Pediatr Nephrol
Volume: 27(11) Pages: 2149-2152
細胞
Volume: 44(5) Pages: 20-26
Volume: 18(1): Pages: 97-98
Pediatr Nephrol.
Volume: 27(11): Pages: 2149-2152
http://www.cis-trans.org/kobe_ku/research.html
http://mhlw-grants.niph.go.jp/index.html;201024083A
