Sentences with phrase «familial form»
The phrase "familial form" means something related to or characteristic of a family. It describes things that are specific to family relationships or resemble traits found within a family. Full definition
Because scientists have had difficulty analyzing these interactions, most research has focused on rare familial forms of the disease.
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Presenilins 1 and 2 (PS1 and PS2) are the catalytic subunits of the γ - secretase complex, and genes encoding mutant PS1 and PS2 variants cause familial forms of Alzheimer's disease.
In the study, the researchers transformed iPS cells from two different people with familial forms of ALS, one caused by mutations in the SOD1 gene and the other by mutations in the VAPB gene.
«Because we have shown that mutated forms of alpha - synuclein, which are associated with early onset familial forms of Parkinson's Disease, affect this process, we also now know that this is a function that may be impaired in people who carry these mutations.»
The genetic basis of Huntington's disease, Rett syndrome, and of familial forms of Parkinson's and Alzheimer's diseases and amyotrophic lateral sclerosis are now established.
When compared to the enhanced alpha - synuclein production in the familial form of the disease, the modest effect created by the A to G mutation would be sufficient over a lifetime to increase the risk of PD, according to Soldner.
The extremely rare gene variants that directly cause the familial forms of the disease all participate in the production and deposition of A-beta, but exactly how APOE variants contribute to the process has been poorly understood.
The findings suggest that at least some familial forms of AD are strongly associated with irregular astrocyte function, which promotes brain inflammation and weakens neurons» energy production and signalling.
The woman had a familial form of ALS caused by a mutation in the gene called superoxide dismutase 1, or SOD1, which is responsible for only 2 % of ALS cases.
Ten percent of ALS patients suffer from a familial form of the disease, while FTD is caused in 40 % of patients by a genetic defect.
The lab of Arthur Abelowitz from Columbia University, transduced fibroblasts from healthy controls and from Alzheimer patients with the familial form of the disease, and obtained human - induced neurons, as you can see here.
For instance, RB1 was the first gene identified that was linked to a familial form of cancer: the eye cancer retinoblastoma.
This «missing heritability» component has led to the conclusion that some forms of IBD — especially the familial forms — could be due to the profound effect of rare variants whose causes are yet to be discovered.
Two prominent examples include Scottish terriers, who have up to 20 times the risk of developing bladder cancer than other breeds, and golden retrievers, who may be prone to a familial form of lymphosarcoma.
In this familial form of the disease, symptoms are usually present by 6 months of age, which is fortunate since then the decision can be made not to breed the affected dog.