ABCD1 p.Glu630Lys
| Predicted by SNAP2: | A: D (95%), C: D (95%), D: D (95%), F: D (95%), G: D (95%), H: D (95%), I: D (95%), K: D (95%), L: D (95%), M: D (95%), N: D (95%), P: D (95%), Q: D (95%), R: D (95%), S: D (95%), T: D (95%), V: D (95%), W: D (95%), Y: D (95%), |
| Predicted by PROVEAN: | A: D, C: D, D: D, F: D, G: D, H: D, I: D, K: D, L: D, M: D, N: D, P: D, Q: D, R: D, S: D, T: D, V: D, W: D, Y: D, |
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[hide] Glutathione imbalance in patients with X-linked ad... Mol Genet Metab. 2013 Aug;109(4):366-70. doi: 10.1016/j.ymgme.2013.05.009. Epub 2013 May 22. Petrillo S, Piemonte F, Pastore A, Tozzi G, Aiello C, Pujol A, Cappa M, Bertini E
Glutathione imbalance in patients with X-linked adrenoleukodystrophy.
Mol Genet Metab. 2013 Aug;109(4):366-70. doi: 10.1016/j.ymgme.2013.05.009. Epub 2013 May 22., [PMID:23768953]
Abstract [show]
BACKGROUND: X-linked adrenoleukodystrophy (X-ALD) is a genetic disorder of X-linked inheritance caused by a mutation in the ABCD1 gene which determines an accumulation of long-chain fatty acids in plasma and tissues. Recent evidence shows that oxidative stress may be a hallmark in the pathogenesis of X-ALD and glutathione plays an important role in the defense against free radicals. In this study we have analyzed glutathione homeostasis in lymphocytes of 14 patients with X-ALD and evaluated the balance between oxidized and reduced forms of glutathione, in order to define the role of this crucial redox marker in this condition. METHODS: Lymphocytes, plasma and erythrocytes were obtained from the whole blood of 14 subjects with X-ALD and in 30 healthy subjects. Total, reduced and protein-bound glutathione levels were measured in lymphocytes by HPLC analysis. Erythrocyte free glutathione and antioxidant enzyme activities, plasma thiols and carbonyl content were determined by spectrophotometric assays. RESULTS: A significant decrease of total and reduced glutathione was found in lymphocytes of patients, associated to high levels of all oxidized glutathione forms. A decline of free glutathione was particularly significant in erythrocytes. The increased oxidative stress in X-ALD was additionally confirmed by the decrease of plasma thiols and the high level of carbonyls. CONCLUSION: Our results strongly support a role for oxidative stress in the pathophysiology of X-ALD and strengthen the importance of the balance among glutathione forms as a hallmark and a potential biomarker of the disease.
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No. Sentence Comment
74 Subject Age (years) Phenotype Mutation HAAM 4 CCALD c.1415_1416delAG (p.Q472RfsX83) AM 24 CCALD c.919C>T (p.Q307X) SM 16 CCALD c.1888G>A (p.E630K) ON 11 CCALD c.1628C>T (p.P543L) MG 62 AMN c.2006A>G (p.H669R) AG 33 AMN c.427C>T (p.P143S) BM 64 AMN c.1382delT (p.L461RfsX97) PF 54 AMN c.1252C>T (p.R418W) RN 61 AMN c.1415_1416delAG (p.Q472RfsX83) ME 20 AMN c.442_444 del 3(AAC)/ins6 (TGTTGA) (p.N148CfsX1) SF 40 AMN c.442_444 del 3(AAC)/ins6 (TGTTGA) (p.N148CfsX1) LM 54 AMN c.1540A>C (p.S514R) LF 43 AMN c.1415_1416delAG (p.Q472RfsX83) LM 40 AMN c.1415_1416delAG (p.Q472RfsX83) 2.5.
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ABCD1 p.Glu630Lys 23768953:74:140
status: NEW