人類陰離子交換蛋白(AE1)的各種突變和遺傳性遠端腎小管酸血症及遺傳性球狀紅血球症有相關，然而考查文獻資料遺傳性球狀紅血球症和遠端腎小管酸血症似乎不會同時存在。本實驗室發現一位病人同時罹患上述兩種疾病。我們懷疑這是因為人類陰離子交換蛋白的突變所致，基因定序結果得知，此病人有一個新的突變(Band 3 Kaohsiung, AE1 E522K)且合併一個AE1 G701D的突變。本研究的目的是探討人類陰離子交換蛋白的各種突變同型體在MDCK和k562細胞中的個別表現及相互結合的複型表現。結果顯示當我們將腎臟同型體WT、E522K、G701D在MDCK細胞中表現以研究相關蛋白質的移行及分佈位置時，發現上述三種腎臟同型體可以作不同方式的結合。個別蛋白質表現時，WT和E522K可到達細胞表面，而G701D則滯留在細胞質內；如果使兩種蛋白質同時表現時，E522K/WT 和 G701D/WT可到達細胞表面，而E522K/G701D則滯留在細胞質內。另一方面，我們將紅血球同型體WT、E522K、G701D在k526細胞中表現以研究相關蛋白質的移行及分佈位置時，發現紅血球同型體WT、E522K、G701D在k562細胞中也可做不同方式之結合，而且紅血球同型體的E522K/G701D在k562細胞表面的量也比WT/WT在細胞表面量有顯著意義的減少，和我們在病患紅血球表面偵測到的AE1只有正常表現量的28% 結果相符。我們的研究顯示人類陰離子交換蛋白的複雜型突變E522K/G701D會造成該蛋白質在腎臟細胞及紅血球的移行缺失，而造成此病人的遠端腎小管酸血症和遺傳性球狀紅血球症。

Missense, nonsense, and frameshift mutations in the human anion exchanger 1 (AE1) have been associated with inherited distal renal tubular acidosis and hereditary spherocytosis. These two disorders are almost always mutually exclusive. However, we have recently found an unusual exception, i.e, a patient with complete distal renal tubular acidosis and severe hereditary spherocytosis. DNA sequencing revealed a novel mutation AE1 E522K (Band 3 Kaohsiung) combined with AE1 G701D mutation in this patient. We hypothesize these AE1 mutations cause these two disorders because of trafficking defect. To elucidate this hypothesis, we analyzed protein trafficking and subcellular location of AE1 and these mutants transfected into MDCK cells. Our results showed that they formed homodimers or heterodimers with each other. Homodimers of the wild-type and E522K mutant were localized at the plasma membrane, whereas the G701D mutant largely remained in the cytoplasm. On the other hand, heterodimers of either E522K or G701D and the wild-type AE1 were located in the plasma membrane, whereas E522K/G701D heterodimers remained in the cytoplasm. As for erythroid isoform of anion exchanger 1, analysis of protein trafficking and subcellular localization of the wild-type erythroid isoform of human anion exchanger 1 and these mutants transfected into k562 cells also showed that they can form homodimers or heterodimers with each other. Erythroid AE1 E522K/G701D cell-surface expression was significantly lower compared with WT homodimer expression. This result coincided with that erythroid AE1 of the patient’s red cell membrane can be detected 28% that of normal control in immunoblotting. Our study shows that the compound E522K/G701D mutation of human anion exchanger 1 causes trafficking defects in kidney and red blood cell lines, and these may explain the complete distal renal tubular acidosis and hereditary spherocytosis of the patient.

Chapter 1. General introduction…………………......l
1.1 Anion exchanger 1..…………................................2
1.2 AE1 and erythroid phenotype……………...........6
1.3 AE1 and renal phenotype………………............11
1.4 Clinical features………………………………....17
1.5 The aim of this investigation..............................19
Chapter 2. E522K/G701D mutations associated with dRTA…..........................................................................21
2.1 Materials and methods………...........................22
2.2 Results……………………...................................30
2.3 Conclusion……………………………................39
Chapter 3. E522K/G701D mutations associated with HS..................................................................................41
3.1 Materials and methods…………………………42
3.2 Results……………………………………….......52
3.3 Conclusion…………………………………….....61
Chapter 4. General discussion….............................62
4.1 The mutants in this patient……..........................63
4.2 Trafficking defects of AE1 E522K/G701D.……65
4.3 Future studies……………………........................66
4.4 General conclusion……………………...............68
References…………………………………………...69
Tables..……………………………………..................76
Figures..………………………………….....................79
Publication list……....................................................109
Compound mutations in human anion exchanger 1 are associated with complete distal renal tubular acidosis and hereditary spherocytosis……………………………………….110
Treatment with Deferiprone for Iron Overload Alleviates Bone Marrow Failure in a Fanconi Anemia Patient…………………...............................................120
Sequential Transplants for Respective Relapse of Hodgkin Disease and Hemophagocytic Lymphohistiocytosis: A Treatment Dilemma……………………………………………126

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