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Common Hispanic Mutation

In the late 1500's, Spanish settlers came to New Mexico. One of those settlers had a genetic mutation on the CCM1 gene that causes the formation of cavernous angiomas. This mutation does not skip generations and each child of an affected person has a 50/50 chance of inheriting the illness. We believe there are tens of thousands of individuals related to the original founder who are now living with what we call the Common Hispanic Mutation. Most are likely undiagnosed. Based on genealogical research, we believe the family line of Cristóbal Baca and Ana Maria Pacheco Ortiz contains the original founder.

Because of geography, the original families of New Mexico tended to stay in the area, and we have found more affected families in northern New Mexico and southern Colorado than anywhere else. However, symptoms of the illness are widely variable, and it wasn't until 1995 that the shared mutation in this population was identified. You can read the original research paper here.

Since then, the University of New Mexico has been the center of research to understand the features of the illness in this group. Publications from patients studied at UNM include:

Familial versus Sporadic Cavernous Malformations: Differences in Developmental Venous Anomaly Association and Lesion Phenotype (2010)

Association of Cardiovascular Risk Factors with Disease Severity in CCM1-type Individuals with the Common Hispanic Mutation (2014)

Polymorphisms in inflammatory and immune response genes associated with CCM1 severity (2014)

Increased Number of White Matter Lesions in Patients with Familial Cerebral Cavernous Malformations (2015)

Cytochrome P450 and matrix metalloproteinase genetic modifiers of disease severity in CCM1 (2016)

Angioma Alliance, the University of New Mexico, the University of California San Francisco, and the Barrow Neurological Institute are partners in a 10 year consortium project that is looking at genetics of individuals with the illness to see if there are factors that could account for differences in severity of the illness even within the same family. The progress from the first five years of this Brain Vascular Malformations Consortium is documented here. Many of the research articles above were written as part of this project.

In 2016, Angioma Alliance awarded a microgrant to the University of New Mexico to perform a study to help us better understand attitudes toward genetic testing in those at risk of carrying the Common Hispanic Mutation. Christine Petranovich, Ph.D., Assistant Professor in the Department of Psychiatry and Behavioral Sciences at the University of New Mexico Health Sciences Center, will be working to document patients' experiences of genetic testing and to suggest comprehensive ways the experience can be improved, tailored to each individual's circumstances and personality. More details on her project can be found here.

In 2017, Angioma Alliance began the Baca Family Historical Project to find and connect descendants of Cristóbal Baca and Ana Maria Pacheco Ortiz. Our mission is to foster community for better health outcomes.

 

Last updated 11 Mar 2017