Novel CCM1 (KRIT1) Mutation Detection in Brazilian Familial Cerebral Cavernous Malformation: Different Genetic Variants in Inflammation, Oxidative Stress, and Drug Metabolism Genes Affect Disease Aggressiveness

Fontes-Dantas, Fabrícia Lima; Galváo, Gustavo da Fontoura; Silva, Elielson Veloso da; Alves-Leon, Soniza Vieira; Rêgo, Cláudia Cecília da Silva; Garcia, Diogo Gomes; Marques, Suelen Adriani; Martínez, Ana Maria Blanco; Silva, Marcello Reis da; Souza, Jorge Marcondes de

doi:10.1016/j.wneu.2020.02.119

Cited by 7 publications

(4 citation statements)

References 27 publications

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“…Interestingly, more data demonstrate the functional association of zinc with the CSC signaling in an indirect fashion, such as zinc-containing superoxide dismutase (SODs) and related reactive oxygen species (ROS) [ 122 , 123 , 124 , 125 ], a downstream target of SODs, matrix metalloproteinases (MMPs) [ 126 ] and its counterpart, a tissue inhibitor of metalloproteinase-1 (TIMP-1) [ 127 , 128 , 129 , 130 , 131 , 132 , 133 , 134 ].…”

Section: Zinc and The Cmpn/cmp Signaling Networkmentioning

confidence: 99%

Zinc’s Association with the CmPn/CmP Signaling Network in Breast Cancer Tumorigenesis

et al. 2022

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It is well-known that serum and cellular concentrations of zinc are altered in breast cancer patients. Specifically, there are notable zinc hyper-aggregates in breast tumor cells when compared to normal mammary epithelial cells. However, the mechanisms responsible for zinc accumulation and the consequences of zinc dysregulation are poorly understood. In this review, we detailed cellular zinc regulation/dysregulation under the influence of varying levels of sex steroids and breast cancer tumorigenesis to try to better understand the intricate relationship between these factors based on our current understanding of the CmPn/CmP signaling network. We also made some efforts to propose a relationship between zinc signaling and the CmPn/CmP signaling network.

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Section: Zinc and The Cmpn/cmp Signaling Networkmentioning

confidence: 99%

Zinc’s Association with the CmPn/CmP Signaling Network in Breast Cancer Tumorigenesis

et al. 2022

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“…Bleeding in CM is caused by leakage of blood from a vein either intralesional or perilesional. "slow ooze" or "cluster of bleeding sites" are configured and can cause defects in the blood brain barrier [21,27]. Hemorrhagic cavernous anomalies show a characteristic "popcorn" or "berry" appearance with a low signal rim due to hemosiderosis on MRI images.…”

Section: Characteristic Appearances On Magnetic Resonance Imagingmentioning

confidence: 99%

Radiosurgery for cerebral cavernous malformations

Cho

2022

J Korean Ster Func Neurosurg

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Objective: A cavernous malformation (CM) is a type of an abnormally large collection of “low-flow” vascular channels without brain parenchyma intervening between the sinusoidal vessels; these occult lesions on transfemoral catheter angiograms were formerly known as “cryptic” vascular lesions. In this review, we briefly describe the overall characteristics of cerebral CMs and summarize radiosurgical methods and results of radiosurgery as treatment for CMs. Methods: The incidence, definition, and natural history of cerebral CMs are described. The principal issues of CMs are recurrent bleeding and seizures. These issues are compared to the radiosurgical interventions for CMs.Results: The rebleeding rates of CMs after radiosurgery is difficult to compare directly with untreated lesions because treated lesions are innately more vulnerable to rebleeding. Seizure outcomes after radiosurgery are also not easily estimated because of the various lesion locations; nevertheless, radiosurgery is an important treatment option for CMs in eloquent areas.Conclusion: Stereotactic radiosurgery (SRS) for CM has been effectively and widely used in recent years. Advances in magnetic resonance imaging and radiosurgery, as well as better studies of this condition’s natural history, are increasingly supporting the role of SRS as a complementary tool in CM treatment. More research is needed.

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“…Notably, inflammatory and immune cells such as monocytes, macrophages, B and T cells, are present in human CCM lesions as well as in mouse models of CCM [13][14][15][16][17] . Recently, our group have demonstrated an adaptive immune-cellular reaction to CCM within CD20+ and CD68+ in the pericavernous tissue of an aggressive pharmaco-resistant epilepsy patient 18 . Moreover, the severity of the disease has been linked to genetic polymorphisms within inflammatory and immune response genes 19 .…”

Section: Introductionmentioning

confidence: 98%

“…preprint (which was not certified by peer review) is the author/funder, who has granted medRxiv a license to display the preprint in The copyright holder for this this version posted January 3, 2024. ; https://doi.org/10.1101/2023.12.30.23300669 doi: medRxiv preprint cells such as monocytes, macrophages, B and T cells, are present in human CCM lesions as well as in mouse models of CCM [13][14][15][16][17] . Recently, our group have demonstrated an adaptive immune-cellular reaction to CCM within CD20+ and CD68+ in the pericavernous tissue of an aggressive pharmaco-resistant epilepsy patient 18 . Moreover, the severity of the disease has been linked to genetic polymorphisms within inflammatory and immune response genes 19 .…”

Section: Introductionmentioning

confidence: 98%

Genetic Markers and Predictive Factors Influencing the Aggressive Behavior of Cerebral Cavernous Malformation

Galvão,

Trefilio,

Salvio

et al. 2024

Preprint

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Biological behavior of Cerebral Cavernous Malformation (CCM) is still controversial without clear-cut signature for biological mechanistic explanation of lesion aggressiveness. There is plenty evidence implicating dysregulated inflammatory and immune responses in vascular malformation pathogenesis, including CCM. In the present study, we evaluated the predictive capacity of the SNPsVDRrs7975232, VDRrs731236, VDRrs11568820as well as expanded the analysis ofPTPN2rs72872125andFCGR2Ars1801274in relation to the aggressive behavior of CCM and its implications in biological processes. This was a single-site prospective observational cohort study with 103 patients enrolled, 42 had close follow-up visits for a period of 4 years, focused on 2 main aspects of the disease: (1) symptomatic event that composed both intracranial bleeding or epilepsy and (2) precocity of symptoms. We report a novel observation that thePTPN2rs72872125CT and theVDRrs7975232CC genotype were independently associated with an asymptomatic phenotype. Additionally,PTPN2rs72872125CC genotype and serum level of GM-CSF could predict a diagnostic association with symptomatic phenotype in CCM patients, while theFCGR2Ars1801274GG genotype could predict a symptomatic event during follow-up. The study also found a correlation betweenVDRrs731236AA andVDRrs11568820CC genotype to the time to first symptomatic event. In summary, this study provides valuable insights into the genetic markers that could potentially impact the development and advancement of CCM.

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Novel CCM1 (KRIT1) Mutation Detection in Brazilian Familial Cerebral Cavernous Malformation: Different Genetic Variants in Inflammation, Oxidative Stress, and Drug Metabolism Genes Affect Disease Aggressiveness

Cited by 7 publications

References 27 publications

Zinc’s Association with the CmPn/CmP Signaling Network in Breast Cancer Tumorigenesis

Zinc’s Association with the CmPn/CmP Signaling Network in Breast Cancer Tumorigenesis

Radiosurgery for cerebral cavernous malformations

Genetic Markers and Predictive Factors Influencing the Aggressive Behavior of Cerebral Cavernous Malformation

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