Joy Tisha, Wang Jian, Hahn Angelika, Hegele Robert A
Robarts Research Institute, London, Ontario, Canada N6A 5K8.
Clin Biochem. 2003 Nov;36(8):641-5. doi: 10.1016/s0009-9120(03)00110-3.
Amyloidosis results from local or systemic extracellular deposition of insoluble protein fibrils and is associated with certain rare mutations in APOA1 encoding apolipoprotein (apo) A-I.
In a patient with renal-predominant amyloidosis with neuropathy, we found the APOA1 G26R mutation.
While the spectrum of APOA1 mutations provides no particular mechanistic insights, molecular diagnosis may still be important due to clinical differences between amyloidosis resulting from mutation in APOA1 vs. other genes.
淀粉样变性是由不溶性蛋白质原纤维在局部或全身细胞外沉积引起的，与载脂蛋白（apo）A-I编码基因APOA1中的某些罕见突变有关。
在一名以肾脏为主且伴有神经病变的淀粉样变性患者中，我们发现了APOA1 G26R突变。
虽然APOA1突变谱并未提供特别的机制性见解，但由于APOA1突变导致的淀粉样变性与其他基因突变导致的淀粉样变性在临床上存在差异，分子诊断可能仍然很重要。
