کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
8344362 | 1541565 | 2010 | 4 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
Milder clinical course of Type IV 3-methylglutaconic aciduria due to a novel mutation in TMEM70
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کلمات کلیدی
موضوعات مرتبط
علوم زیستی و بیوفناوری
بیوشیمی، ژنتیک و زیست شناسی مولکولی
زیست شیمی
پیش نمایش صفحه اول مقاله
![عکس صفحه اول مقاله: Milder clinical course of Type IV 3-methylglutaconic aciduria due to a novel mutation in TMEM70 Milder clinical course of Type IV 3-methylglutaconic aciduria due to a novel mutation in TMEM70](/preview/png/8344362.png)
چکیده انگلیسی
In the light of recent reports linking cases of type IV 3-methylglutaconic aciduria (3-MGCA) and hypertrophic cardiomyopathy to mutations in TMEM70, we proceeded with sequencing analysis of this gene. We identified one previously reported splice site mutation, c.317-2A>G and a novel mutation c.494G>A (p.G165D) in an evolutionarily conserved region predicted to be deleterious. This variant was not identified in 100 chromosomes of healthy control subjects and 200 chromosomes of patients with cardiomyopathies. Western blotting using a polyclonal antibody against ATP5J, subunit F6 of ATP synthase, on patient's skin fibroblasts showed undetectable amount of the ATP5J protein. In comparison to the previously reported cases, we note that our patient had normal growth parameters and cognitive development, absence of structural heart and urinary tract defects, no dysmorphic features, improvement of symptoms with age, and persistence of hypertrophic cardiomyopathy.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Molecular Genetics and Metabolism - Volume 101, Issues 2â3, OctoberâNovember 2010, Pages 282-285
Journal: Molecular Genetics and Metabolism - Volume 101, Issues 2â3, OctoberâNovember 2010, Pages 282-285
نویسندگان
Oleg A. Shchelochkov, Fang-Yuan Li, Jing Wang, Hongli Zhan, Jeffrey A. Towbin, John Lynn Jefferies, Lee-Jun Wong, Fernando Scaglia,