2013 Fiscal Year Final Research Report
A next-generation sequencing-based strategy of searching for disease genes that are indispensable for viability of glomerular podocytes and peripheral neurons
| Project/Area Number |
24659504
|
|---|
| Research Category |
Grant-in-Aid for Challenging Exploratory Research
|
| Allocation Type | Single-year Grants |
|---|
| Research Field |
Pediatrics
|
|---|
| Research Institution | Kansai Medical University |
|---|
Principal Investigator |
|
|---|
| Project Period (FY) |
2012-04-01 – 2014-03-31
|
| Keywords | 腎不全 / 疾患遺伝子 / ネフローゼ / ポドサイト / シークエンス |
|---|
| Research Abstract |
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.
|
Research Products
(18 results)
-
-
-
-
-
-
-
-
-
[Presentation] 透析困難症を呈したミトコンドリア異常症による肥大型心筋症の一例2013
Author(s)
上田啓子,中野力,中東三聖,土手絹子,染矢和則,草部牧子,菊池早苗,山原英樹,今田崇裕,正木浩哉,塚口裕康,塩島一朗
Organizer
第58回日本透析医学会学術集会
Place of Presentation
福岡国際会議場
Year and Date
20130620-23
-
-
-
-
-
-
-
-
-
