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2023-07-18 08:13:40 by Cristina Brown The scientific enigma still unsolved. The two 12-year-old Spanish sisters share…

Cayetana and Celia are two 12 year old Spanish girls, identical twins, they share the same DNA And they also share the same genetic mutation. Celia is healthy, she leads the normal life of twelve, while Cayetana’s muscles are rapidly turning to bone: the girl suffers from an ultra-rare disease that has spared her sister.… Continue reading The mystery of...

"A Caye não sabe como é viver um dia sem dor", lamenta a mãe das irmãs de 12 anos. É um caso único no mundo.

Cayetana and Celia are identical twins with the same DNA, but only Cayetana suffers from progressive osseous heteroplasia, turning her body tissues to bone.

L’enigma scientifico è ancora irrisolto. Le due sorelle spagnole dodicenni condividono la stessa mutazione genetica, ma una sola ha una rara malattia che trasforma i suoi muscoli in ossa che l’hanno costretta all’amputazione delle gambe

Las hermanas Cayetana y Celia, de 12 años, comparten una misma mutación genética, pero solo una desarrolló una enfermedad ultrarrara que convierte el músculo en placas óseas

Advertisement Un día de 2010, un óvulo de Loló Suárez y un espermatozoide de Eduardo Agraso se fusionaron y formaron una sola célula con el mismo ADN, que finalmente dio a luz a dos hermanas gemelas idénticas: Cayetana y Celia. Ambos tienen ahora 12 años, disfrutan nadando en la playa de su pueblo de Portosín

Las hermanas Cayetana y Celia, de 12 años, comparten una misma mutación genética, pero solo una de ellas sufre una enfermedad ultrarrara que convierte el músculo en placas óseas

Des sœurs jumelles identiques âgées de 12 ans et porteuses de la même mutation génétique se sont retrouvées avec des vies très différentes, les muscles de l’une étant transformés en os tandis que l’autre se développe normalement. Les sœurs, nommées Cayetana et Celia, vivent à Portosín dans le nord-ouest de l’Espagne et, en tant que […]

Twelve-year-old sisters Cayetana and Celia share the same genetic mutation, but only one of them suffers from an extremely rare disease that turns muscle into bony plaques

by Cristina Brown The scientific enigma still unsolved. The two 12-year-old Spanish sisters share the same genetic…

Sisters Cayetana and Celia, 12, share the same genetic mutation, but only one of them suffers from an ultra-rare disease that turns muscle into bone plates. Celia has practically no symptoms, while Cayetan's muscles are rapidly transforming into bone. Pediatrician Federico Martinón Torres co-directs the medical team that works against the clock to understand why the disease is primed with a sister and respects her twin. "We are always behind the disease," acknowledges the doctor, head of Pediatrics at the University Clinical Hospital of Santiago de Compostela.

BackgroundProgressive osseous heteroplasia (POH) is an ultrarare genetic disorder characterized by an inactivating mutation in the GNAS gene that causes heterotopic ossification. Inhibition of the mammalian target of the rapamycin (mTOR) signalling pathway has been proposed as a therapy for progressive bone fibrodysplasia and non-genetic forms of bone heteroplasia. Herein, we describe the impact of using Everolimus as a rescue therapy for an identical twin girl exhibiting an aggressive clinical phenotype of POH.MethodsClinical evaluation of the progression of the disease during Everolimus treatment was performed periodically. Cytokine markers involved in bone metabolism and protein markers related to bone activity were analyzed to explore bone turnover activity.ResultsThe patient received Everolimus therapy for 36 weeks. During treatment, no clinical improvement of the disease was perceived. Analysis of biochemical parameters, namely, β-CTX (r2 = −0.576, P-value = 0.016) and PNIP (r2 = −0.598, P-value = 0.011), indicated that bone turnover activity was significantly reduced. Additionally, bone metabolism-related biomarkers showed only a significant positive correlation with PTH levels.ConclusionsEverolimus treatment did not modify the clinical progression of the disease in an aggressive form of POH, although an impact on the protein markers studied was observed.

Eduardo Agraso, vicepresidente de la entidad y padre de las gemelas de Lousame Celia y Caye, hizo entrega de dicha aportación

Cayetana y Celia padecen heteroplasia ósea progresiva, con solo unos 60 casos en el mundo, y un grupo...

Cayetana y Celia padecen heteroplasia ósea progresiva, con solo unos 60 casos en el mundo, y un grupo investiga sobre ella en Santiago ...

La Asociación de Heteroplasia Ósea Progresiva, que presiden los padres de dos gemelas gallegas de Lousame (A Coruña) que padecen esta enfermedad rara,...

Publicado en Prensa - ASGPOH.