Abstract Gaucher disease (GD) is the most common lysosomal storage disease. It is a multisystemic metabolic disease caused by GBA pathogenic mutations. Although the general symptoms have been known for a long time, new treatment possibilities, the detection of different biomarkers, and innovations in diagnosis and follow‐up have paved the way for further studies. Recent studies have shown that the immune system has become an essential factor associated with disease progression. The role of Gaucher cells in the disease is well characterized. In addition to phagocytic macrophage cells, lymphocytes, complement system, and inflammatory pathway elements are also implicated in GD as they were shown to be the underlying factors causing associated pathologies such as Parkinson's. In this article, the relationship between the GD and the immune system has been examined and reviewed in light of new findings.

Gaucher's disease

10.1111/jcmm.70087

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Effect of hypoxia on HIF-1α and NOS3 expressions in CD34+ cells of JAK2V617F-positive myeloproliferative neoplasms

Advances in Medical Sciences (2023)

Can Veysel Şoroğlu İldeniz Uslu-Bıçak Selin Fulya Toprak Akif Selim Yavuz Selçuk Sözer

Hypoxia

10.1016/j.advms.2023.03.003

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Mitokondriyal DNA, Anaerkil Kalıtım ve İnsan

Can Veysel Şoroğlu Ezgi Gizem Berkay Burçak Vural

Mitochondrial DNA (mtDNA) studies have been formed within the network of medicine, genetics, anthropology, and archeology. It has been an indispensable source of knowledge in relation to population relationships, migration routes, evolutionary developmental steps, and enlightening historical unknowns over the ages as well as being essential in researching maternally inherited mitochondrial diseases. mtDNA - haplogroup studies provide us advanced data with molecular genetic techniques and the development of next-generation sequencing technologies, which cannot be obtained with the classical approach of anthropological studies. In this review, mtDNA studies obtained from ancient and modern human materials were reviewed.

Haplogroup

Ancient DNA

Human genetics

10.26650/jarhs2021-783621

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