Monogenic determinants of familial Alzheimer's disease: presenilin-2 mutations

1998 ◽  
Vol 54 (9) ◽  
pp. 910-919 ◽  
Author(s):  
P. Renbaum ◽  
E. Levy-Lahad
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Familial Alzheimer’S Disease ◽  
Presenilin 2 ◽  
Familial Alzheimer's Disease

scholarly journals The Influence of Endoproteolytic Processing of Familial Alzheimer's Disease Presenilin 2 on Aβ42 Amyloid Peptide Formation

1999 ◽  
Vol 274 (49) ◽  
pp. 35233-35239 ◽  
Author(s):  
Helmut Jacobsen ◽  
Dieter Reinhardt ◽  
Manfred Brockhaus ◽  
Daniel Bur ◽  
Christine Kocyba ◽  
...  
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Amyloid Peptide ◽  
Familial Alzheimer’S Disease ◽  
Peptide Formation ◽  
Presenilin 2 ◽  
Familial Alzheimer's Disease

Localisation of presenilin 2 in human and rodent pancreatic islet beta-cells; Met239Val presenilin 2 variant is not associated with diabetes in man

1999 ◽  
Vol 112 (13) ◽  
pp. 2137-2144
Author(s):  
E.T. Jaikaran ◽  
G. Marcon ◽  
L. Levesque ◽  
P.S. George-Hyslop ◽  
P.E. Fraser ◽  
...  
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Beta Cells ◽  
Pancreatic Islet ◽  
Early Onset ◽  
Cell Protein ◽  
Familial Alzheimer’S Disease ◽  
Duct Cells ◽  
Presenilin 2 ◽  
Familial Alzheimer's Disease

Mutations in presenilin 1 and 2 are causative factors for early onset familial Alzheimer's disease and possible roles for presenilins include protein trafficking, regulation of apoptosis and/or calcium homeostasis. Presenilin 2 mRNA is expressed in brain, muscle and pancreas but the role of pancreatic presenilin 2 and its relationship to diabetes are unknown. Presenilin 2 immunoreactivity was localised in human and rodent pancreas to islet cells and found in granules of beta-cells. Presenilin 2 was identified in primitive islet and duct cells of human foetal pancreas and in proliferating exocrine duct cells in human pancreatitis but not found in islet amyloid deposits in Type 2 diabetic subjects. Full length, approximately 50 kDa, and the approximately 30 kDa N-terminal fragment of presenilin 2 were identified by western blotting in extracted rodent pancreas but only the 30 kDa fragment was detected in mouse islets and human insulinoma. Post-mortem pancreatic morphology was normal in a subject with the presenilin 2 Met239Val variant and early onset familial Alzheimer's disease. Oral glucose tolerance tests on subjects with the presenilin 2 Met239Val mutation unaffected by early onset familial Alzheimer's disease (mean age 35 years) and on their first-degree relatives without the mutation demonstrated no evidence of glucose intolerance or increased proinsulin secretion. PS2 is a novel β-cell protein with potential roles in development or protein processing but pancreatic islet structure and function appear to be unaffected by the Met239Val mutation.

The presenilin 2 M239I mutation associated with familial Alzheimer's disease reduces Ca2+ release from intracellular stores

2004 ◽  
Vol 15 (2) ◽  
pp. 269-278 ◽  
Author(s):  
Giancarlo Zatti ◽  
Roberta Ghidoni ◽  
Laura Barbiero ◽  
Giuliano Binetti ◽  
Tullio Pozzan ◽  
...  
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Familial Alzheimer’S Disease ◽  
Presenilin 2 ◽  
Familial Alzheimer's Disease
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