HPRT1 Deficiency Induces Alteration of Mitochondrial Energy Metabolism in the Brain.

Alterations in function of hypoxanthine guanine phosphoribosyl transferase (HPRT), one of the major enzymes involved in purine nucleotide exchange, lead to overproduction of uric acid and produce various symptoms of Lesch-Nyhan syndrome (LNS). One of the hallmarks of LNS is maximal expression of HPRT in the central nervous system with the highest activity of this enzyme in the midbrain and basal ganglia. However, the nature of neurological symptoms has yet to be clarified in details.

Current advances in gene therapy of mitochondrial diseases.

Mitochondrial diseases (MD) are a heterogeneous group of multisystem disorders involving metabolic errors. MD are characterized by extremely heterogeneous symptoms, ranging from organ-specific to multisystem dysfunction with different clinical courses. Most primary MD are autosomal recessive but maternal inheritance (from mtDNA), autosomal dominant, and X-linked inheritance is also known.

P2X7 Receptor and Purinergic Signaling: Orchestrating Mitochondrial Dysfunction in Neurodegenerative Diseases.

Mitochondrial dysfunction is one of the basic hallmarks of cellular pathology in neurodegenerative diseases. Since the metabolic activity of neurons is highly dependent on energy supply, nerve cells are especially vulnerable to impaired mitochondrial function. Besides providing oxidative phosphorylation, mitochondria are also involved in controlling levels of second messengers such as Ca ions and reactive oxygen species (ROS).

Evolution of Mechanical Stress () on Properties of Granulocytes in Acute Lymphoblastic Leukemia.

Acute lymphoid leukemia (ALL) affects the lymph cells or lymphocytes that make up the lymph tissue and prevents the proper maturation of the bone marrow cells. The processes through which cells convert mechanical stimuli into biochemical signals are called mechanical transitions and result in the sensation of specific cellular responses. In the present study, the functional properties of granulocytes of the patients with ALL were investigated using the mechanical stress model.