[Analysis of GBA mutations in patients with Parkinson's disease in the Krasnoyarsk region].

Objective: To analyze mutations and polymorphisms in exons 2, 7, 8, 9, 10 and 11 of the glucocerebrosidase () gene in patients of the Krasnoyarsk region diagnosed with Parkinson's disease (PD).

Material And Methods: Seventy-five patients with sporadic and familial forms of PD were examined. Genomic DNA was isolated from the whole blood of patients.

Methionine and total homocysteine in hypertensive patients with renal excretory dysfunction.

The role of the kidneys in the metabolism and homeostasis of sulfur-containing amino acids is great, so the levels of methionine (Met), total homocysteine (tHcy) and their ratios can be of diagnostic value in chronic kidney disease (CKD), in a course of the arterial hypertension (AH). The aim of the study was to evaluate the Met/tHcy ratio in hypertensive patients with CKD. We used blood plasma of 76 patients aged 40-75 years with AH and the excretory dysfunction of the kidneys; subgroups: 1 - with proteinuria (n=37); 2 - without proteinuria with glomerular filtration rate (GFR) < 90 ml/min/1.

Homoarginine test for evaluation of metabolic renal dysfunction.

Low plasma L-homoarginine (hArg) concentration is an independent predictor of adverse cardiovascular outcomes and overall mortality, as well as the progression of chronic kidney disease (CKD). The enzyme L-arginine:glycinamidinotransferase (AGAT, EC 2.1.

Screening of somatic mutations in the JAK2 and CALR genes by high-resolution melting curve analysis.

Somatic mutations associated with oncological diseases, including Ph-myeloproliferative neoplasms (Ph-MPN), are very diverse, occur with different frequencies and different allelic burden levels. Therefore, at the initial stage of performing molecular-genetic diagnostic procedures, it is desirable to be able to conduct screening tests in the laboratory. This is especially important when analyzing rare and diverse mutations.

[The evaluation of homoarginine and folic acid in patients with arterial hypertension.].

According to current data, a low level of folic acid (FA) contributes to the progression of arterial hypertension (AH), affecting the metabolism of cells that are involved in the vascular tone regulation, such as hypothalamic astrocytes of nervous tissue. It is also known that the level of FA in the nervous tissue and cerebrospinal fluid is 2-3 times higher than in plasma. There is another metabolic marker of cardiovascular diseases, the level of plasma homoarginine (hArg).