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Role of GM-NM-1(olf) in Familial and Sporadic Adult-Onset Primary Dystonia

ABSTRACT: Gene expression studies were performed to identify pathways possibly dysregulated by mutant in the gene GM-NM-1(olf). These experiments employed RNA derived from lymphoblastoid cell lines established for 4 affected carriers and 4 non-carriers. In comparison to endogenous control and other dystonia-associated genes, GNAL was expressed at relatively low levels in lymphoblastoid cell lines. Comparison of whole blood expression profiles of mutation carrying dystonia patients with normal controls

ORGANISM(S): Homo sapiens

SUBMITTER: Satya Vemula

PROVIDER: E-GEOD-43771 | biostudies-arrayexpress |

REPOSITORIES: biostudies-arrayexpress

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Role of Gα(olf) in familial and sporadic adult-onset primary dystonia.

Vemula Satya R SR Puschmann Andreas A Xiao Jianfeng J Zhao Yu Y Rudzińska Monika M Frei Karen P KP Truong Daniel D DD Wszolek Zbigniew K ZK LeDoux Mark S MS

Human molecular genetics 20130227 12

The vast majority of patients with primary dystonia are adults with focal or segmental distribution of involuntary movements. Although ~10% of probands have at least one first- or second-degree relative to dystonia, large families suited for linkage analysis are exceptional. After excluding mutations in known primary dystonia genes (TOR1A, THAP1 and CIZ1), whole-exome sequencing identified a GNAL missense mutation (c.682G>T, p.V228F) in an African-American pedigree with clinical phenotypes that ...[more]

PMID: 23449625

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