Researchers use massive sequencing methods to identify rare genetic bone disorder
Researchers of the Cell Biology and Physiology-LABRET group of the University of Malaga (UMA), together with the Networking Biomedical Research Center in Bioengineering, Biomaterials and Nanomedicine (CIBER-BBN), have described a new genetic skeletal disorder based on a precision medicine strategy.
By using methods of massive sequencing -of all genes- they have identified the mutations that caused a rare bone disorder, particularly, the mutations in LAMA5 , the gene encoding an extracellular matrix protein around blood vessels in skeletal tissue.
This disorder consists in an extreme bone fragility combined with a lack of mineralization and skeletal deformity associated with joint dislocation and heart diseases, as well as a pulmonary insufficiency that causes perinatal mortality -at the time of birth.
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IMAGE: Alteration of focal points revealing cell signaling problems in patients with skeletal dysplasia caused by mutations in LAMA5. Green represents immunofluorescence localization of Vinculin (focal adhesions), purple is Phalloidin (actin. view more
Credit: University of Malaga
Researchers of the Cell Biology and Physiology-LABRET group of the University of Malaga (UMA), together with the Networking Biomedical Research Center in Bioengineering, Biomaterials and Nanomedicine (CIBER-BBN), have described a new genetic skeletal disorder based on a precision medicine strategy.
By using methods of massive sequencing -of all genes- they have identified the mutations that caused a rare bone disorder, particularly, the mutations in LAMA5 , the gene encoding an extracellular matrix protein around blood vessels in skeletal tissue.
Researchers use precision medicine strategy to identify a new genetic skeletal disorder
Researchers of the Cell Biology and Physiology-LABRET group of the University of Malaga (UMA), together with the Networking Biomedical Research Center in Bioengineering, Biomaterials and Nanomedicine (CIBER-BBN), have described a new genetic skeletal disorder based on a precision medicine strategy.
By using methods of massive sequencing -of all genes- they have identified the mutations that caused a rare bone disorder, particularly, the mutations in LAMA5 , the gene encoding an extracellular matrix protein around blood vessels in skeletal tissue.
This disorder consists in an extreme bone fragility combined with a lack of mineralization and skeletal deformity associated with joint dislocation and heart diseases, as well as a pulmonary insufficiency that causes perinatal mortality -at the time of birth.