# COLLAGEN BIOSYNTHESIS IN CONNECTIVE TISSUE DISEASE

> **NIH NIH R01** · DUKE UNIVERSITY · 1987 · $196,809

## Abstract

Collagen is the major structural protein of the body and as such provides
the framework for all tissues including skin, bone, tendon, cartilage,
lung, cornea, and heart valve.  Proper collagen biosynthesis requires a
precise orchestration of a number of transcriptional and post-translation
steps including regulation of type-specific collagen biosynthesis,
hydroxylation of proline and lysine, glycosylation of hydroxylysine,
disulfide bond formation, transport to the extracellular space, enzymatic
excision of extension peptides, fibril formation, and cross-linking.
Perturbation in this sequential biosynthetic scheme might be expected to
result in structurally altered connective tissue and disease.  Individual
abnormalities in collagen biosynthesis have been described in patients
presenting clinically with Ehlers-Danlos syndrome, osteogenesis imperfecta,
and cutis laxa.  We propose to study collagen biosynthesis in skin
fibroblasts obtained from patients with these study collagen biosynthesis
in skin fibroblasts obtained from patients with these and other inherited
disorders of connective tissue.  The following parameters of collagen
biosynthesis will be measured:  (1) type-specific collagen synthesis, (2)
synthesis of procollagen and processing of procollagen, (3) synthesis of
glycosylated hybroxylysine, (4) synthesis of reducible cross-links, (5)
levels of lysyl hydroxylase prolyl hydroxylase and lysyl, (6) levels of
collagen specific mRNA, and (7) structure of collagen genes.  It is hoped
that these studies will allow us to better understand these diseases at a
biochemical level.  Such understanding is a prerequisite for rational
prenatal diagnosis, genetic counseling, and therapeutic management.

## Key facts

- **NIH application ID:** 3154928
- **Project number:** 5R01AR017128-15
- **Recipient organization:** DUKE UNIVERSITY
- **SAM.gov UEI:** TP7EK8DZV6N5
- **Principal Investigator:** SHELDON R PINNELL
- **Activity code:** R01 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 1987
- **Award amount:** $196,809
- **Award type:** 5
- **Project period:** 1978-09-01 → 1988-08-31

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/3154928

## Citation

> US National Institutes of Health, RePORTER application 3154928, COLLAGEN BIOSYNTHESIS IN CONNECTIVE TISSUE DISEASE (5R01AR017128-15). Retrieved via MORVS 2026-10-24 from https://api.morvs.ai/grant/nih/3154928. Licensed CC0.

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