A Complete Absence of Missense Mutation in Myosin Regulatory and Essential Light Chain Genes of South Indian Hypertrophic and Dilated Cardiomyopathies.
Cardiology
; 141(3): 156-166, 2018.
Article
en En
| MEDLINE
| ID: mdl-30605904
ABSTRACT
BACKGROUND:
Myosin is a hexameric contractile protein composed of 2 heavy chains associated with 4 light chains of 2 distinct classes - 2 regulatory light chains (MYL2) and 2 essential light chains (MYL3). The myosin light chains stabilize the long alpha helical neck of the myosin head and regulate the myosin ATPase activities.OBJECTIVES:
Mutations in MYL2 and MYL3 are reported to be associated with cardiomyopathies. However, there is no study available on these genes in Indian cardiomyopathies, and therefore we planned to study them.METHOD:
For the first time we sequenced MYL2 and MYL3 genes in a total of 248 clinically well-characterized cardiomyopathies consisting of 101 hypertrophic and 147 dilated cases along with 207 healthy controls from south India.RESULTS:
Our study revealed a total of 10 variations - 7 in MYL2 and 3 in MYL3, of which 3 are novel variations observed exclusively in cases. However, the 15 causative missense mutations previously reported are totally absent in our study, which showed that the sequences of MYL2 and MYL3 are highly conserved in Indian cases/controls.CONCLUSIONS:
MYL2 and MYL3 mutations are rare and the least cause of cardiomyopathies in Indians.Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Cardiomiopatía Hipertrófica
/
Cardiomiopatía Dilatada
/
Cadenas Ligeras de Miosina
/
Mutación Missense
/
Miosinas Cardíacas
Tipo de estudio:
Observational_studies
/
Risk_factors_studies
Límite:
Adult
/
Humans
/
Middle aged
País/Región como asunto:
Asia
Idioma:
En
Revista:
Cardiology
Año:
2018
Tipo del documento:
Article
País de afiliación:
India