Basal lama2 laminin. Medical search. Frequent questions

Mutations in dystrophin and Laminin, alpha 2 (LAMA2) have also been implicated in this disease. (wikipedia.org)
Genotype-phenotype correlation in a large population of muscular dystrophy patients with LAMA2 mutations. (medscape.com)
Mutations of the LAMA2 gene are the most common cause of congenital muscular dystrophy that frequently leads to death in early childhood (Domogatskaya, 2012). (biolamina.com)

Laminin 221 is important for muscle development and function and is together with laminin 211 one of the main laminin isoforms present in adult muscle tissue, including varying amounts of laminin 521 and laminin 421 depending on the tissue. (biolamina.com)
In metabolic tissues such as the pancreas, adipose, muscle, and liver, laminin isoforms are expressed in discrete temporal and spatial patterns suggesting that certain isoforms may support the development and function of particular metabolic cell types. (bvsalud.org)
This review focuses on the research to date detailing the expression of laminin isoforms, their potential function, as well as known pathways involved in laminin signaling in metabolic tissues. (bvsalud.org)

MECs synthesize key extracellular matrix (ECM) proteins of the meninges such as various collagens, as well as fibronectin, laminin and tenascin, important for pia basal lamina integrity and thus for neuronal support and function [ 7 ]. (biomedcentral.com)

In the developing heart both laminin 211 and laminin 221 are expressed in the extracellular matrix of cardiomyocytes as well as in the basement membrane zones of the endo- and pericardium and the capillaries (Roediger, 2010). (biolamina.com)
Laminins are extracellular matrix proteins that reside in the basement membrane and provide structural support in addition to promoting cellular adhesion and migration. (bvsalud.org)

Cardiac complications are especially common in patients with a mutation in FKRP and occasionally in patients with laminin-α2 deficiency. (medscape.com)

Through interactions with cell surface receptors, laminins stimulate intracellular signaling cascades which direct specific survival and differentiation outcomes. (bvsalud.org)

Laminin 211 as well as laminin 221, are very important for cardiomyocytes and heart muscle development. (biolamina.com)

Laminin subunit beta 1 (LAMB1) is involved in attachment, migration, and organization during development, and its elevated expression has been associated with several cancers. (bvsalud.org)

For a review of α2-laminin in skeletal muscle function, see Holmberg and Durbeej, 2012. (biolamina.com)

The olfactory epithelium consists of olfactory sensory cells, sustentacular cells and basal cells. (wikipedia.org)

The major laminin of adult skeletal muscle is laminin-2 (also known as merosin), and only mutations of LAMA2 gene encoding laminin α2 cause muscular dystrophy. (medscape.com)
A large series of patients with LAMA2 mutations was described, highlighting the differences between the severe homogenous presentation typical of patients with absent merosinimmunostaining with the more heterogeneous presentation of those with residual merosin expression. (medscape.com)

MDC1A is caused by mutations in the laminin α2 gene ( LAMA2 ) linked to chromosome 6q22-q23 and inherited as autosomal recessive. (medscape.com)
Clinical variants of MDC1A occur with some mutations when only partial laminin-α2 deficiency is present. (medscape.com)

The expression of core α-DG and laminin-α2 subunit in skin fibroblasts and MCF-7 cells was assessed by western blot. (bvsalud.org)
T. Immunodetection of core α-DG in skin fibroblasts revealed the expression of truncated forms of core α-DG accompanied by reduced expression of laminin-α2 in POMGNT1-CMD patients and one patient with LAMA2-CMD. (bvsalud.org)

Congenital muscular dystrophies (CMDs) result from genetically inherited defects in the biosynthesis and/or the posttranslational modification (glycosylation) of laminin-α2 and α-dystroglycan (α-DG), respectively. (nih.gov)

Laminin-211 appears to mediate these effects at least in part by dystroglycan receptor interactions, as preventing dystroglycan expression in neural cells led to a similar set of BBB abnormalities and gliovascular disturbances, which additionally included perturbed vascular endothelial glucose transporter-1 localization. (nih.gov)

These neurons are hence dependent upon RG extensions to support their migration from apical to basal regions. (frontiersin.org)

CONCLUSION: A correlation between the expression pattern/level of core α-DG and laminin-α2 could be found in patients with different types of CMD. (bvsalud.org)