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Association of PRPS1 Mutations with Disease Phenotypes
المؤلفون المشاركون
Mittal, Rahul
Patel, Kunal
Mittal, Jeenu
Chan, Brandon
Yan, Denise
Grati, M’hamed
Liu, Xue Zhong
المصدر
العدد
المجلد 2015، العدد 2015 (31 ديسمبر/كانون الأول 2015)، ص ص. 1-7، 7ص.
الناشر
Hindawi Publishing Corporation
تاريخ النشر
2015-05-24
دولة النشر
مصر
عدد الصفحات
7
التخصصات الرئيسية
الملخص EN
Phosphoribosylpyrophosphate synthetase 1 (PRPS1) codes for PRS-I enzyme that catalyzes the first step of nucleotide synthesis.
PRPS1 gene mutations have been implicated in a number of human diseases.
Recently, new mutations in PRPS1 have been identified that have been associated with novel phenotypes like diabetes insipidus expanding the spectrum of PRPS1-related diseases.
The purpose of this review is to evaluate current literature on PRPS1-related syndromes and summarize potential therapies.
The overexpression of PRPS1 results in PRS-I superactivity resulting in purine overproduction.
Patients with PRS-I superactivity demonstrate uric acid overproduction, hypotonia, ataxia, neurodevelopment abnormalities, and postlingual hearing impairment.
On the other hand, decreased activity leads to X-linked nonsyndromic sensorineural deafness (DFNX-2), Charcot-Marie-Tooth disease-5 (CMTX5), and Arts syndrome depending on the residual activity of PRS-I.
Mild PRS-I deficiency (DFNX-2) results in non-syndromic progressive hearing loss whereas moderate PRS-I deficiency (CMTX5) and severe PRS-I deficiency (Arts syndrome) present with peripheral or optic neuropathy, prelingual progressive sensorineural hearing loss, and central nervous system impairment.
Currently, purine replacement via S-adenosylmethionine (SAM) supplementation in patients with Arts syndrome appears to improve their condition.
This suggests that SAM supplementation can alleviate symptoms of PRPS1 deficient patients and open new avenues of therapeutic intervention.
نمط استشهاد جمعية علماء النفس الأمريكية (APA)
Mittal, Rahul& Patel, Kunal& Mittal, Jeenu& Chan, Brandon& Yan, Denise& Grati, M’hamed…[et al.]. 2015. Association of PRPS1 Mutations with Disease Phenotypes. Disease Markers،Vol. 2015, no. 2015, pp.1-7.
https://search.emarefa.net/detail/BIM-1060855
نمط استشهاد الجمعية الأمريكية للغات الحديثة (MLA)
Mittal, Rahul…[et al.]. Association of PRPS1 Mutations with Disease Phenotypes. Disease Markers No. 2015 (2015), pp.1-7.
https://search.emarefa.net/detail/BIM-1060855
نمط استشهاد الجمعية الطبية الأمريكية (AMA)
Mittal, Rahul& Patel, Kunal& Mittal, Jeenu& Chan, Brandon& Yan, Denise& Grati, M’hamed…[et al.]. Association of PRPS1 Mutations with Disease Phenotypes. Disease Markers. 2015. Vol. 2015, no. 2015, pp.1-7.
https://search.emarefa.net/detail/BIM-1060855
نوع البيانات
مقالات
لغة النص
الإنجليزية
الملاحظات
Includes bibliographical references
رقم السجل
BIM-1060855
قاعدة معامل التأثير والاستشهادات المرجعية العربي "ارسيف Arcif"
أضخم قاعدة بيانات عربية للاستشهادات المرجعية للمجلات العلمية المحكمة الصادرة في العالم العربي
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