| Autor: |
Mwafi, Nesrin Riad, Al-Tarawneh, Amjad Asri, Tarawneh, Ibrahim Naji, Alqedrh, Mohannad Fayiz, Alsbou', Ahmad Ibrahim, Al Mughrabi F., Lekaa Ja'far, Khlaifat, Ali Mohammad, Al-Limoun, Muhamad Odeh, khleifat, Khaled Mohammad |
| Předmět: |
|
| Zdroj: |
Jordan Journal of Biological Sciences; Dec2023, Vol. 16 Issue 4, p641-647, 7p |
| Abstrakt: |
Alkaptonuria is a rare genetic disease caused by defect in the phenylalanine and tyrosine metabolism due to a deficiency in homogentisate 1,2-dioxygenase enzyme. The formation of ochronotic brownish-black pigment is the hallmark of the disease and at later stage AKU patients complain of recurrent renal calculi formation. In this report, we describe the case of 48 years old man who is previously diagnosed with alkaptonuria and is suffering from recurrent renal stones formation. We analysed the chemical composition of his AKU-stones by Fourier transform infrared spectroscopy (FTIR) and Inductively coupled plasma-mass spectrometry (ICP-MS) respectively and compared them with non-AKU stones obtained from 48 years old non-AKU man. Our results showed that sulphur content was 33 folds higher in AKU stones compared to non-AKU sample. This provides an evidence that sulphur-rich protein is a critical component for stone formation and growth from calcium oxalate monohydrate (COM) crystals. Accordingly, a model was proposed for the formation and growth of ochronotic renal stones in AKU patients with protein stimulated COM aggregation based on the generation of adducts between benzoquinone acetate and sulphur-rich proteins. Overall, the outcomes of this study shed a new light on the disease pathogenesis at the molecular level and opened new perspective which might orient the physicians to find a convenient therapeutic intervention or at least prophylactic measures to avoid recurrent formation of calculi in AKU patients. [ABSTRACT FROM AUTHOR] |
| Databáze: |
Complementary Index |
| Externí odkaz: |
|
