Elastin-driven genetic diseases

Maria Laura Duque Lasio; Beth A. Kozel

doi:10.1016/j.matbio.2018.02.021

Elastin-driven genetic diseases

Maria Laura Duque Lasio
, Beth A. Kozel

Division of Genetics and Genomic Medicine

Research output: Contribution to journal › Review article › peer-review

91 Scopus citations

Abstract

Elastic fibers provide recoil to tissues that undergo repeated deformation, such as blood vessels, lungs and skin. Composed of elastin and its accessory proteins, the fibers are produced within a restricted developmental window and are stable for decades. Their eventual breakdown is associated with a loss of tissue resiliency and aging. Rare alteration of the elastin (ELN) gene produces disease by impacting protein dosage (supravalvar aortic stenosis, Williams Beuren syndrome and Williams Beuren region duplication syndrome) and protein function (autosomal dominant cutis laxa). This review highlights aspects of the elastin molecule and its assembly process that contribute to human disease and also discusses potential therapies aimed at treating diseases of elastin insufficiency.

Original language	English
Pages (from-to)	144-160
Number of pages	17
Journal	Matrix Biology
Volume	71-72
DOIs	https://doi.org/10.1016/j.matbio.2018.02.021
State	Published - Oct 2018

Keywords

Autosomal dominant cutis laxa
Elastin
Emphysema
Supravalvar aortic stenosis
Williams Beuren duplication syndrome
Williams Beuren syndrome

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10.1016/j.matbio.2018.02.021

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title = "Elastin-driven genetic diseases",

abstract = "Elastic fibers provide recoil to tissues that undergo repeated deformation, such as blood vessels, lungs and skin. Composed of elastin and its accessory proteins, the fibers are produced within a restricted developmental window and are stable for decades. Their eventual breakdown is associated with a loss of tissue resiliency and aging. Rare alteration of the elastin (ELN) gene produces disease by impacting protein dosage (supravalvar aortic stenosis, Williams Beuren syndrome and Williams Beuren region duplication syndrome) and protein function (autosomal dominant cutis laxa). This review highlights aspects of the elastin molecule and its assembly process that contribute to human disease and also discusses potential therapies aimed at treating diseases of elastin insufficiency.",

keywords = "Autosomal dominant cutis laxa, Elastin, Emphysema, Supravalvar aortic stenosis, Williams Beuren duplication syndrome, Williams Beuren syndrome",

author = "\{Duque Lasio\}, \{Maria Laura\} and Kozel, \{Beth A.\}",

note = "Funding Information: This work was supported by the National Institutes of Health [grant numbers HL006210 , HL006212 ]. Publisher Copyright: {\textcopyright} 2017",

year = "2018",

month = oct,

doi = "10.1016/j.matbio.2018.02.021",

language = "English",

volume = "71-72",

pages = "144--160",

journal = "Matrix Biology",

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T1 - Elastin-driven genetic diseases

AU - Duque Lasio, Maria Laura

AU - Kozel, Beth A.

PY - 2018/10

Y1 - 2018/10

N2 - Elastic fibers provide recoil to tissues that undergo repeated deformation, such as blood vessels, lungs and skin. Composed of elastin and its accessory proteins, the fibers are produced within a restricted developmental window and are stable for decades. Their eventual breakdown is associated with a loss of tissue resiliency and aging. Rare alteration of the elastin (ELN) gene produces disease by impacting protein dosage (supravalvar aortic stenosis, Williams Beuren syndrome and Williams Beuren region duplication syndrome) and protein function (autosomal dominant cutis laxa). This review highlights aspects of the elastin molecule and its assembly process that contribute to human disease and also discusses potential therapies aimed at treating diseases of elastin insufficiency.

AB - Elastic fibers provide recoil to tissues that undergo repeated deformation, such as blood vessels, lungs and skin. Composed of elastin and its accessory proteins, the fibers are produced within a restricted developmental window and are stable for decades. Their eventual breakdown is associated with a loss of tissue resiliency and aging. Rare alteration of the elastin (ELN) gene produces disease by impacting protein dosage (supravalvar aortic stenosis, Williams Beuren syndrome and Williams Beuren region duplication syndrome) and protein function (autosomal dominant cutis laxa). This review highlights aspects of the elastin molecule and its assembly process that contribute to human disease and also discusses potential therapies aimed at treating diseases of elastin insufficiency.

KW - Autosomal dominant cutis laxa

KW - Elastin

KW - Emphysema

KW - Supravalvar aortic stenosis

KW - Williams Beuren duplication syndrome

KW - Williams Beuren syndrome

UR - https://www.scopus.com/pages/publications/85043992925

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DO - 10.1016/j.matbio.2018.02.021

M3 - Review article

C2 - 29501665

AN - SCOPUS:85043992925

SN - 0945-053X

VL - 71-72

SP - 144

EP - 160

JO - Matrix Biology

JF - Matrix Biology

ER -

Elastin-driven genetic diseases

Abstract

Keywords

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