LDL Receptor-Related Protein 5 (LRP5) Affects Bone Accrual and Eye Development

نویسندگان

  • Yaoqin Gong
  • Roger B. Slee
  • Naomi Fukai
  • Georges Rawadi
  • Sergio Roman-Roman
  • Anthony M. Reginato
  • Hongwei Wang
  • Tim Cundy
  • Francis H. Glorieux
  • Dorit Lev
  • Margaret Zacharin
  • Konrad Oexle
  • Jose Marcelino
  • Wafaa Suwairi
  • Shauna Heeger
  • George Sabatakos
  • Suneel Apte
  • William N. Adkins
  • Jeremy Allgrove
  • Mine Arslan-Kirchner
  • Jennifer A. Batch
  • Peter Beighton
  • Graeme C.M. Black
  • Richard G. Boles
  • Laurence M. Boon
  • Carla Borrone
  • Han G. Brunner
  • Georges F. Carle
  • Bruno Dallapiccola
  • Anne De Paepe
  • Barbara Floege
  • Melissa Lees Halfhide
  • Bryan Hall
  • Raoul C. Hennekam
  • Tatsuo Hirose
  • Ab Jans
  • Harald Jüppner
  • Chong Ae Kim
  • Kim Keppler-Noreuil
  • Alfried Kohlschuetter
  • Didier LaCombe
  • Marie Lambert
  • Emmanuelle Lemyre
  • Tom Letteboer
  • Leena Peltonen
  • Rajkumar S. Ramesar
  • Marta Romanengo
  • Hannu Somer
  • Elisabeth Steichen-Gersdorf
  • Beat Steinmann
  • Beth Sullivan
  • Andrea Superti-Furga
  • Walter Swoboda
  • Marie-José van den Boogaard
  • Wim Van Hul
  • Miikka Vikkula
  • Marcela Votruba
  • Bernhard Zabel
  • Teresa Garcia
  • Roland Baron
  • Bjorn R. Olsen
  • Matthew L. Warman
چکیده

In humans, low peak bone mass is a significant risk factor for osteoporosis. We report that LRP5, encoding the low-density lipoprotein receptor-related protein 5, affects bone mass accrual during growth. Mutations in LRP5 cause the autosomal recessive disorder osteoporosis-pseudoglioma syndrome (OPPG). We find that OPPG carriers have reduced bone mass when compared to age- and gender-matched controls. We demonstrate LRP5 expression by osteoblasts in situ and show that LRP5 can transduce Wnt signaling in vitro via the canonical pathway. We further show that a mutant-secreted form of LRP5 can reduce bone thickness in mouse calvarial explant cultures. These data indicate that Wnt-mediated signaling via LRP5 affects bone accrual during growth and is important for the establishment of peak bone mass.

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

ثبت نام

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

منابع مشابه

Low-density lipoprotein receptor-related protein 5 (LRP5) is essential for normal cholesterol metabolism and glucose-induced insulin secretion.

A Wnt coreceptor low-density lipoprotein receptor-related protein 5 (LRP5) plays an essential role in bone accrual and eye development. Here, we show that LRP5 is also required for normal cholesterol and glucose metabolism. The production of mice lacking LRP5 revealed that LRP5 deficiency led to increased plasma cholesterol levels in mice fed a high-fat diet, because of the decreased hepatic cl...

متن کامل

Severe hypercholesterolemia, impaired fat tolerance, and advanced atherosclerosis in mice lacking both low density lipoprotein receptor-related protein 5 and apolipoprotein E.

LDL receptor-related protein 5 (LRP5) plays multiple roles, including embryonic development and bone accrual development. Recently, we demonstrated that LRP5 is also required for normal cholesterol metabolism and glucose-induced insulin secretion. To further define the role of LRP5 in the lipoprotein metabolism, we compared plasma lipoproteins in mice lacking LRP5, apolipoprotein E (apoE), or b...

متن کامل

Cbfa1-independent decrease in osteoblast proliferation, osteopenia, and persistent embryonic eye vascularization in mice deficient in Lrp5, a Wnt coreceptor

The low-density lipoprotein receptor-related protein (Lrp)-5 functions as a Wnt coreceptor. Here we show that mice with a targeted disruption of Lrp5 develop a low bone mass phenotype. In vivo and in vitro analyses indicate that this phenotype becomes evident postnatally, and demonstrate that it is secondary to decreased osteoblast proliferation and function in a Cbfa1-independent manner. Lrp5 ...

متن کامل

The genetics of low-density lipoprotein receptor-related protein 5 in bone: a story of extremes.

A few years ago, human genetic studies provided compelling evidence that the low-density lipoprotein receptor-related protein 5 (LRP5) is involved in the regulation of bone homeostasis because pathogenic LRP5 mutations were found in monogenic conditions with abnormal bone density. On the one hand, the osteoporosis pseudoglioma syndrome results from loss of function of LRP5, whereas on the other...

متن کامل

Association between Bone Mineral Density and LDL Receptor-Related Protein 5 Gene Polymorphisms in Young Korean Men

Recently, It has been reported that the LDL receptor-related protein 5 (LRP5) regulates bone formation, and that mutations of the gene cause osteoporosis-pseudoglioma syndrome or high bone mass phenotypes. However, the mutations cannot explain a genetic trait for osteoporosis in the general population because of their rarity. From 219 Korean men aged 20-34 yr, we looked for six known polymorphi...

متن کامل

ذخیره در منابع من


  با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

ثبت نام

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

عنوان ژورنال:
  • Cell

دوره 107  شماره 

صفحات  -

تاریخ انتشار 2001