کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
1934215 | 1050635 | 2008 | 5 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
X-linked adrenoleukodystrophy phenotype is independent of ABCD2 genotype
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کلمات کلیدی
X-linked adrenoleukodystrophyABCD2Peroxisomal disorders - اختلالات پراکسیومinflammation - التهاب( توروم) linkage analysis - تجزیه و تحلیل اتصالSegregation analysis - تحلیل جداسازیNeurodegeneration - تولید نوروژنیکABC-transporters - حمل کننده ABCAssociation study - مطالعه انجمنModifier gene - ویرایش ژنPeroxisomes - پراکسیوم ها
موضوعات مرتبط
علوم زیستی و بیوفناوری
بیوشیمی، ژنتیک و زیست شناسی مولکولی
زیست شیمی
پیش نمایش صفحه اول مقاله
چکیده انگلیسی
Strikingly variable clinical phenotypes can be found in X-linked adrenoleukodystrophy (X-ALD) even with the same ABCD1 mutation. ABCD2 is the closest homolog to ABCD1. Since ABCD2 overexpression complements the loss of ABCD1 in vivo and in vitro, we have investigated the possible role of the ABCD2 gene locus as determinant of X-ALD phenotypes. Sequence and segregation analysis of the ABCD2 gene, in a large X-ALD family with different phenotypes disclosed that the identical ABCD2 alleles were inherited in brothers affected by mild (noncerebral) versus severe (childhood cerebral) X-ALD phenotypes. Moreover, two independent association studies of ABCD2 polymorphisms and clinical phenotypes showed an even allele distribution in different X-ALD phenotypes and controls. Based on these findings ABCD2 can be excluded as a major modifier locus for clinical diversity in X-ALD. These findings are of particular importance for the attempt of pharmacological induction of ABCD2 as a possible therapeutic approach in X-ALD.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Biochemical and Biophysical Research Communications - Volume 377, Issue 1, 5 December 2008, Pages 176-180
Journal: Biochemical and Biophysical Research Communications - Volume 377, Issue 1, 5 December 2008, Pages 176-180
نویسندگان
Esther M. Maier, Peter U. Mayerhofer, Muriel Asheuer, Wolfgang Köhler, Martina Rothe, Ania C. Muntau, Adelbert A. Roscher, Andreas Holzinger, Patrick Aubourg, Johannes Berger,