論文 - 詳細
| RRC ID | 31342 |
|---|---|
| 著者 | Hafler BP, Klein ZA, Jimmy Zhou Z, Strittmatter SM. |
| タイトル | Progressive retinal degeneration and accumulation of autofluorescent lipopigments in Progranulin deficient mice. |
| ジャーナル | Brain Res |
| Abstract |
Prior investigations have shown that patients with neuronal ceroid lipofuscinosis (NCL) develop neurodegeneration characterized by vision loss, motor dysfunction, seizures, and often early death. Neuropathological analysis of patients with NCL shows accumulation of intracellular autofluorescent storage material, lipopigment, throughout neurons in the central nervous system including in the retina. A recent study of a sibling pair with adult onset NCL and retinal degeneration showed linkage to the region of the progranulin (GRN) locus and a homozygous mutation was demonstrated in GRN. In particular, the sibling pair with a mutation in GRN developed retinal degeneration and optic atrophy. This locus for this form of adult onset neuronal ceroid lipofuscinosis was designated neuronal ceroid lipofuscinosis-11 (CLN11). Based on these clinical observations, we wished to determine whether Grn-null mice develop accumulation of autofluorescent particles and retinal degeneration. Retinas of both wild-type and Progranulin deficient mice were examined by immunostaining and autofluorescence. Accumulation of autofluorescent material was present in Progranulin deficient mice at 12 months. Degeneration of multiple classes of neurons including photoreceptors and retinal ganglion cells was noted in mice at 12 and 18 months. Our data shows that Grn(-/-) mice develop degenerative pathology similar to features of human CLN11. |
| 巻・号 | 1588 |
| ページ | 168-74 |
| 公開日 | 2014-11-7 |
| DOI | 10.1016/j.brainres.2014.09.023 |
| PII | S0006-8993(14)01234-7 |
| PMID | 25234724 |
| PMC | PMC4254024 |
| MeSH | Animals Cells, Cultured Electroretinography Granulins Immunohistochemistry Intercellular Signaling Peptides and Proteins / deficiency* Intercellular Signaling Peptides and Proteins / genetics Mice, Inbred C57BL Mice, Knockout Microscopy, Confocal Neuronal Ceroid-Lipofuscinoses Optical Imaging Photoreceptor Cells, Vertebrate / pathology Photoreceptor Cells, Vertebrate / physiology Progranulins Retinal Degeneration / pathology Retinal Degeneration / physiopathology* Retinal Ganglion Cells / pathology Retinal Ganglion Cells / physiology |
| IF | 2.733 |
| 引用数 | 14 |
| WOS 分野 | NEUROSCIENCES |
| オルトメトリクス指標 |
オルトメトリクス指標項目
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| 最多言及媒体 | News |
| 各媒体での言及数の合計 | 1 |
| 過去6か月間でのオルトメトリクス指標の変動値 | 0.0 |
| リソース情報 | |
| 実験動物マウス | RBRC02370 |