Functional Analyses of Mutations in HEPACAM Causing Megalencephalic Leukoencephalopathy

被引：18

作者：

Arnedo, Tanit ^{[1
,2
]}

Lopez-Hernandez, Tania ^{[1
]}

Jeworutzki, Elena ^{[3
]}

Capdevila-Nortes, Xavier ^{[1
]}

Sirisi, Sonia ^{[1
]}

Pusch, Michael ^{[3
]}

Estevez, Raul ^{[1
,2
]}

机构：

[1] Univ Barcelona, Secc Fisiol, Dept Ciencias Fisiol 2, Barcelona 08907, Spain

[2] ISCIII, Ctr Invest Red Enfermedades Raras CIBERER, U 750, Barcelona, Spain

[3] CNR, Ist Biofis, I-16149 Genoa, Italy

来源：

HUMAN MUTATION | 2014年 / 35卷 / 10期

关键词：

leukodystrophy; astrocyte; chloride channels; HEPACAM; GLIALCAM; SUBCORTICAL CYSTS; GLIALCAM; MLC1; LEUKODYSTROPHY;

D O I：

10.1002/humu.22622

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a rare type of leukodystrophy characterized by white matter edema. Autosomal-recessive mutations in MLC1 cause MLC type 1, and autosomalrecessive or dominant mutations in HEPACAM (also called GLIALCAM) cause MLC type 2A and type 2B, respectively. The role of MLC1 and HEPACAM is unknown, although they have been related with the processes of cell volume regulation and potassium siphoning by astrocytes. Previous studies with some of the mutations identified in HEPACAM showed that most of them are associated with a trafficking defect. Here, we analyzed biochemically and functionally most mutations identified up-to-date in HEPACAM. Our results allow classifying the effect of mutations in different subtypes and we indicate different cellular mechanisms that lead to MLC pathogenesis. (C) 2014 Wiley Periodicals, Inc.

引用

页码：1175 / 1178

页数：4

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