Normal ATXN3 Allele but Not CHIP Polymorphisms Modulates Age at Onset in Machado–Joseph Disease
نویسندگان
چکیده
منابع مشابه
Normal ATXN3 Allele but Not CHIP Polymorphisms Modulates Age at Onset in Machado–Joseph Disease
BACKGROUND Age at onset (AO) in Machado-Joseph disease (MJD) is closely associated with the length of the CAG repeat at the mutant ATXN3 allele, but there are other intervening factors. Experimental evidence indicates that the normal ATXN3 allele and the C-terminal heat shock protein 70 (Hsp70)-interacting protein (CHIP) may be genetic modifiers of AO in MJD. METHODS To investigate this hypot...
متن کاملAssociation of CCR2 Gene but not CCR5 Gene Polymorphisms with Alzheimer’s Disease
Chemokines participate in the regulation of immune and inflammatory responses by interacting with their specific receptors on related immune and inflammatory cells such as B-lymphocytes, T-lymphocytes and antigen-presenting cells. Chemokines and their receptors are therefore considered to mediate inflammation and tissue damage in autoimmune disorders. The recent studies have revealed the genoty...
متن کاملThe APOE ε2 allele increases the risk of earlier age at onset in Machado-Joseph disease.
OBJECTIVE To investigate a modulating effect of the apolipoprotein E (APOE) polymorphism on age at onset of Machado-Joseph disease (MJD). DESIGN We collected blood samples from 192 patients with MJD and typed the APOE polymorphism. Patients The 192 patients with MJD included 59 from the Azores, 73 from mainland Portugal, and 60 from Brazil. SETTING Academic research center. RESULTS Cases ...
متن کاملSNCA Gene, but Not MAPT, Influences Onset Age of Parkinson's Disease in Chinese and Australians
BACKGROUND α-Synuclein (SNCA) and microtubule-associated protein tau (MAPT) are the two major genes independently, but not jointly, associated with susceptibility for Parkinson's disease (PD). The SNCA gene has recently been identified as a major modifier of age of PD onset. Whether MAPT gene synergistically influences age of onset of PD is unknown. Objective. To investigate independent and joi...
متن کاملBone mineral density loss in postmenopausal onset rheumatoid arthritis is not greater than premenopausal onset disease
Background: Postmenopausal onset rheumatoid arthritis (post-RA) is expected to have greater bone mineral density (BMD) loss than premenopauasal onset (pre-RA) due to estrogen deficiency and aging. This study aimed to compare the BMD status of the two RA groups with age-matched non-RA controls. Methods: The patients with RA on follow-up examination were stratified according to age of onset. ...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Frontiers in Neurology
سال: 2012
ISSN: 1664-2295
DOI: 10.3389/fneur.2012.00164