Autosomal Dominant Leukodystrophy Caused by Lamin B1 Duplications: A Clinical and Molecular Case Study of Altered Nuclear Function and Disease

被引:26
|
作者
Padiath, Quasar Saleem [1 ,2 ]
Fu, Ying-Hui [1 ]
机构
[1] Univ Calif San Francisco, Dept Neurol, San Francisco, CA 94158 USA
[2] Univ Pittsburgh, Grad Sch Publ Hlth, Dept Human Genet, Pittsburgh, PA 15261 USA
来源
NUCLEAR MECHANICS AND GENOME REGULATION | 2010年 / 98卷
关键词
PROGRESSIVE MULTIPLE-SCLEROSIS; PELIZAEUS-MERZBACHER-DISEASE; ADULT-ONSET LEUKODYSTROPHY; GILFORD-PROGERIA-SYNDROME; AUTONOMIC SYMPTOMS; OLIGODENDROCYTE DEVELOPMENT; STRUCTURAL ORGANIZATION; PARTIAL LIPODYSTROPHY; ALEXANDER-DISEASE; A-TYPE;
D O I
10.1016/S0091-679X(10)98014-X
中图分类号
Q2 [细胞生物学];
学科分类号
071009 ; 090102 ;
摘要
Autosomal dominant leukodystrophy (ADLD) is an adult-onset demyelinating disorder that has recently shown to be caused by duplications of the nuclear lamina gene, lamin B1. This chapter attempts to collate and summarize the current knowledge about the disease and the clinical, pathological, and radiological presentations of the different ADLD families described till date. It also provides an overview of the molecular genetics underlying the disease and the mechanisms that may cause the duplication mutation event. ADLD is the first disease that has ever been linked to lamin B1 mutations and it expands the pathological role of the nuclear lamia to include disorders of the brain. The chapter also speculates on the different mechanisms that may link an important and ubiquitous structure like the nuclear lamina with the complex and cell-specific functions of myelin formation and maintenance. Understanding these mechanisms may not only prove helpful in understanding ADLD pathology but can also help in identifying new pathways that may be involved in myelin biology that can have implications for common demyelinating diseases like multiple sclerosis.
引用
收藏
页码:337 / 357
页数:21
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