Luisa Mestroni, M.D.
Director of the Molecular Genetics Laboratory of the University of Colorado
Cardiovascular Institute, and of the Adult Medical Genetics program of
the Department of Internal Medicine.
Genetics of adult heart disease; cardiomyopathies
Luisa's research has focused on the study of the genetics of cardiomyopathies, diseases of the cardiac muscle. Major achievements of her group are the identification of inheritance and genetic heterogeneity in patients with dilated cardiomyopathy, the mapping of a dilated cardiomyopathy locus on chromosome 9 and of a right ventricular dysplasia locus on chromosome 14, and the identification of novel dystrophin gene mutations in patients with severe cardiac disease but absence of muscle dystrophy.
More recently, her laboratory has identified a mutation in the lamin A/C gene which results in dilated cardiomyopathy with variable skeletal muscle involvement. In addition to identifying a novel genetic mechanism leading to dilated cardiomyopathy, this work enhanced the understanding of the link between this heart disease and the skeletal muscle diseases such as Emery-Dreifuss and Limb-Girdle muscular dystrophy.
Research projects currently in progress include the analysis of candidate of genes for familial dilated cardiomyopathy, the identification of the disease gene mapping on chromosome 9, and gene mapping for arrhythmogenic right ventricular dysplasia. The family studies are performed in the Familial Cardiomyopathy Clinic at the University of Colorado Hospital and through international collaborations.
Publications
Krajinovic M, Pinamonti B, Sinagra GF, Vatta M, Severini GM, Milasin J, Falaschi
A, Camerini F, Giacca M, Mestroni L. Linkage of familial idiopathic dilated
cardiomyopathy to chromosome 9. Am J Hum Genet 1995;57:846.
Severini GM, Krajinovic M, Pinamonti B, Sinagra GF, Fioretti P, Brunazzi
MC, Falaschi A, Camerini F, Giacca M, Mestroni L. A new locus for arrhythmogenic
right ventricular, dysplasia on the long arm of chromosome 14. Genomics
1996;31:193.
Milasin J, Muntoni F, Severini GM, Bartoloni L, Vatta M, Krajinovic M,
Angelini C, Camerini F, Falaschi A, Mestroni L, Giacca M. A point Mutation
in the 5' splice site of the first intron of the dystrophin gene responsible
for X-linked dilated cardiomyopathy. Hum Mol Genet 1996;5:73.
Mestroni L, Maisch B, McKenna WJ, Schwartz K, Rocco C, Tesson F, Wilke
A, Komajda M. Guidelines for the study of familial dilated cardiomyopathies.
Eur Heart J 1998-120:93-102.
Mestroni L, Rocco C, Gregori D, Sinagra G, Di Lenarda A, Miocic S, Vatta
M, Pinamonti B, Muntoni F, Caforio ALP, McKenna WJ, Falaschi A, Giacca
M, Camerini F. Familial dilated cardiomyopathy: evidence for, genetic
and phenotypic heterogeneity. J Am Coll Cardiol 1999;34: 181-90.
Brodsky, G., Muntoni, F., Miocic, S., Sinagra, G., Sewry, C., Mestroni,
L. A lamin A/C gene mutation associated with dilated cardiomyopathy with
variable skeletal muscle involvement. Circulation 2000; '1101:473-476.
Bristow,RM, Mestroni L, Bohlmeyer T,J, Gilbert EM. Dilated Cardiomyopathies.
In Hurst’s The Heart., Fuster V et al, eds, McGraw-Hill, New York
2000, pages 1947-1966.
Bristow MR, O’Connell JB, Mestroni L. Myocardial diseases. In: Kelley’s
Textbook of Internal Medicine, Humes HD, ed. Lippincott, Williams &
Wilkins, Phyladelphia 2000, 464-474.
Gregori D, Rocco C, Miocic S, Mestroni L. Estimating the frequency of
familial dilated cardiomiopathy in the presence of misclassification errors.
J. Appl. Statistics 2001;28:53-62.
Taylor M, Mestroni L. Lamin A/C mutations in familial dilated cardiomyopathy.
In: Harrison’s Advances in Cardiology, Braunwald E. ed, The McGraw-Hill
Companies Inc., Boston 2002, pp 455-460.
Taylor MRG, Fain P, Sinagra, Robinson ML, Robertson AD, Carniel E, Di
Lenarda A, Bohlmeyer TJ, Ferguson DA, Brodsky GL, Boucek MM, Lascor J,
Moss AC, Li W-LP, Stetler GL, Muntoni F, Bristow MR, Mestroni L. Natural
history of dilated cardiomyopathy due to lamin A/C gene mutations. J Am
Coll Cardiol 2003 (in press).
Lindenfeld J, Miller GG, Shakar S, Zolty R, Lowes BL, Wolfel EE, Mestroni
L, Page R, Kobashigawa J. Drug Therapy in the Heart Transplant Recipient.
Part I: Immunosuppressive Drugs. Circulation (in press).
Taylor RG, Carniel E, Mestroni L. Molecular genetic testing for Familial
Hypertrophic Cardiomyopathy. Exp Rev Mol Diagn (in press)
Taylor RG, Carniel E, Mestroni L. Cardiomyopathy, familial dilated. Orphanet
Databases. http://www.orpha.net
Taylor MRG, Robinson M, Mestroni L. Analysis of genetic variation of Iamin
A/C gene (LMNA) by denaturing high-performance liquid chromatography.
J Biomol Screening. 2003;(submitted).
