کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
8480145 | 1551371 | 2016 | 5 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
Alkaptonuria: An example of a “fundamental disease”-A rare disease with important lessons for more common disorders
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کلمات کلیدی
HGDAKUssNMRHGAOMIMECMAlkaptonuria - آلکاپتونوریاOsteoarthritis - استئوآرتریت(آرتروز)Homogentisic acid - اسید هموگنسیسTem - این استRare disease - بیماری نادرsolid state nuclear magnetic resonance - رزونانس مغناطیسی هسته ای حالت جامدAge - سنExtracellular matrix - ماتریکس خارج سلولیAdvanced glycation end products - محصولات نهایی پیشرفته گلیساسیونTransmission electron microscopy - میکروسکوپ الکترونی عبوریOnline Mendelian Inheritance in Man - وراث آنلاین مندلیان در انسانProteoglycan - پروتئوگلیکان
موضوعات مرتبط
علوم زیستی و بیوفناوری
بیوشیمی، ژنتیک و زیست شناسی مولکولی
بیولوژی سلول
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![عکس صفحه اول مقاله: Alkaptonuria: An example of a “fundamental disease”-A rare disease with important lessons for more common disorders Alkaptonuria: An example of a “fundamental disease”-A rare disease with important lessons for more common disorders](/preview/png/8480145.png)
چکیده انگلیسی
“Fundamental diseases” is a term introduced by the charity Findacure to describe rare genetic disorders that are gateways to understanding common conditions and human physiology. The concept that rare diseases have important lessons for biomedical science has been recognised by some of the great figures in the history of medical research, including Harvey, Bateson and Garrod. Here we describe some of the recently discovered lessons from the study of the iconic genetic disease alkaptonuria (AKU), which have shed new light on understanding the pathogenesis of osteoarthritis. In AKU, ochronotic pigment is deposited in cartilage when collagen fibrils become susceptible to attack by homogentisic acid (HGA). When HGA binds to collagen, cartilage matrix becomes stiffened, resulting in the aberrant transmission of loading to underlying subchondral bone. Aberrant loading leads to the formation of pathophysiological structures including trabecular excrescences and high density mineralised protrusions (HDMPs). These structures initially identified in AKU have subsequently been found in more common osteoarthritis and appear to play a role in joint destruction in both diseases.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Seminars in Cell & Developmental Biology - Volume 52, April 2016, Pages 53-57
Journal: Seminars in Cell & Developmental Biology - Volume 52, April 2016, Pages 53-57
نویسندگان
James A. Gallagher, Jane P. Dillon, Nicolas Sireau, Oliver Timmis, Lakshminarayan R. Ranganath,