Lizozomal Depo Hastal�klar�n�n Otofaji ile �li�kisi

Keskin, Seda; Alka�, �smail Mert; �er�i, Burcu

Cilt : 30 Say� : 1 Y�l : 2023

30/1Son Say� Erken Bask� Ar�iv Pop�ler Makaleler

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Lizozomal Depo Hastal�klar�n�n Otofaji ile �li�kisi [Van Med J]

Van Med J. 2022; 29(4): 445-453 | DOI: 10.5505/vtd.2022.95776

Lizozomal Depo Hastal�klar�n�n Otofaji ile �li�kisi

Seda Keskin¹, �smail Mert Alka�², Burcu �er�i³
¹Van Y�z�nc� Y�l �niversitesi T�p Fak�ltesi T�bbi Histoloji ve Embriyoloji Anabilim Dal�, Van
²Dumlup�nar �niversitesi, M�hendislik Fak�ltesi, Malzeme Bilimi M�hendisli�i Anabilim Dal�, K�tahya
³�zmir Katip �elebi �niversitesi, T�p Fak�ltesi, T�bbi Biyoloji ve Genetik Anabilim Dal�,�zmir

Lizozomlar, h�credeki hasarl� bile�enlerin veya g�revini tamamlam�� yap�lar�n par�aland�� organellerdir ve otofajik yola��n son basama��nda g�rev al�rlar. Otofaji-lizozom yola��nda meydana gelen bir hasar h�cre i�in hayati �neme sahip sorunlara neden olabilir. Lizozomal Depo Hastal�klar� (LDH), gen mutasyonlar�n�n neden oldu�u, olduk�a s�k g�r�len insan genetik hastal�klar�ndan biridir. �imdiye kadar, 70�ten fazla LDH tan�mlanm��t�r. LDH esas olarak lizozomlardaki enzimlerin veya lizozomla ili�kili proteinlerin i�levsel bozukluklar�ndan kaynaklan�r. Bu bozukluklar, sindirilmemi� makromolek�llerin h�crelerde birikmesine yol a�ar. LDH, �zellikle hastal��n erken evrelerinde ba�ta sinir sistemi olmak �zere iskelet sistemi ve retik�loendotelyal sistemde bir�ok sistemik hasara neden olabilir. Otofajinin mod�lasyonu ve yeniden aktivasyonu LDH i�in yeni bir terap�tik yakla��m olarak kabul edilir. Bu derlemede lizozomal depo hastal�klar� ve otofaji aras�ndaki ili�kinin genel mekanizmalar�, tedavi yakla��mlar�yla birlikte de�erlendirilmi�tir.

Anahtar Kelimeler: Otofaji, lizozomal depo hastal�klar�, endozom, protein fonksiyon kayb�

Relationship of Lysosomal Storage Diseases (LSD) with Autophagy

Seda Keskin¹, �smail Mert Alka�², Burcu �er�i³
¹Van Y�z�nc� Y�l University, Faculty of Medicine Department of Medical Histology and Embryology, Van
²Dumlup�nar University, Faculty of Engineering, Department of Materials Science Engineering, K�tahya
³�zmir Katip �elebi University, Faculty of Medicine, Department of Medical Biology and Genetics, �zmir

Lysosomes are organelles that degrade damaged components or structures that have completed their functions and have roles in the last step of the autophagy pathway. Damage of the autophagy-lysosome pathway can cause vital problems for the cell. Lysosomal storage diseases (LSD) are one of the most common human genetic disorder caused by gene mutations. Up to now, more than 70 LSD were identified. LSD is mainly caused by functional disorders of enzymes in lysosomes or proteins associated with lysosomes. These disorders lead to the accumulation of undigested macromolecules in cells LSD can cause many systemic damages mainly in the nervous system, skeletal system, and reticuloendothelial system especially at early stages of the disease. Modulation and reactivation of autophagy is accepted as a new therapeutic approach for LSD. In this review, the general mechanisms of the relationship between lysosomal storage diseases and autophagy were evaluated together with the treatment approaches.

Keywords: Autophagy, lysosomal storage disease, endosome, protein function loss

Seda Keskin, �smail Mert Alka�, Burcu �er�i. Relationship of Lysosomal Storage Diseases (LSD) with Autophagy. Van Med J. 2022; 29(4): 445-453

Sorumlu Yazar: Seda Keskin, T�rkiye
Makale Dili: T�rk�e

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