Meyahealth
HomeGeneticsGenePLOD1 gene
Back to Gene
PLOD1 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

PLOD1 gene

The PLOD1 gene provides instructions for making an enzyme essential for the stability and strength of collagen fibers in the body's connective tissues.

Normal Function

The PLOD1 gene provides instructions for making an enzyme called lysyl hydroxylase 1. This enzyme modifies an amino acid called lysine, a building block of proteins, through a chemical reaction called hydroxylation to create hydroxylysine. Hydroxylysine is a key component of collagens, which are complex molecules that provide strength and support to many body tissues.

Hydroxylysine is essential for collagen molecules to form stable interactions, known as cross-links, in the spaces between cells. These cross-links are responsible for the formation of strong collagen fibers.

Health Conditions Related to Genetic Changes

Ehlers-Danlos syndrome

More than 30 mutations in the PLOD1 gene have been linked to the kyphoscoliotic type of Ehlers-Danlos syndrome, a group of disorders affecting connective tissues in the skin, bones, blood vessels, and other organs. This specific type is characterized by:

  • Unusually large range of joint movement (hypermobility)
  • Weak muscle tone (hypotonia)
  • Severe, progressive curvature of the spine (kyphoscoliosis) that can interfere with breathing

The most common mutation involves the abnormal duplication of a large portion of the gene, resulting in a nonfunctional version of the lysyl hydroxylase 1 enzyme. Other mutations introduce premature stop signals that prevent any functional enzyme production. A loss of this enzyme's activity reduces hydroxylysine levels, impairing collagen cross-linking and weakening the connective tissue network.

Genomic Location

The PLOD1 gene is found on chromosome 1.

Frequently Asked Questions

Management typically combines physical therapy to strengthen back muscles, bracing to limit progression, and, in advanced cases, surgical correction such as spinal fusion. Respiratory support, including breathing exercises or, if needed, mechanical ventilation, may also be required to maintain adequate lung function.
child with this condition often shows unusually wide joint range of motion, floppy or weak muscles (hypotonia), and a rapidly progressing curvature of the spine that may be noticeable by the first year of life. Parents may also observe frequent bruising, thin skin, or delayed motor milestones. Early evaluation by a geneticist or pediatrician can help identify these clues.
definitive diagnosis requires DNA sequencing of the PLOD1 gene, usually performed on a blood sample. The test looks for known pathogenic variants, including large duplications or premature stop codons. The procedure is minimally invasive, takes a few weeks for results, and can be done at most clinical genetics laboratories.
Yes. Gentle, low‑impact exercises that avoid excessive joint strain, maintaining a healthy weight, and using ergonomic supports (e.g., cushioned seating) can lessen nerve compression risks. Regular monitoring by a multidisciplinary team—including orthopedists, neurologists, and pulmonologists—is essential for early intervention.===
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

Meyahealth

Ⓒ 2026. All rights reserved by MEYA

About UsTerms & PolicyFAQ