Aurora magazine

Scientists from Yale, Oregon, and California have discovered new markers for the most serious forms of multiple sclerosis. There are two linked cytokines, which may explain why some people develop the most violent form of the disease. If intuition turned out to be accurate, it could improve the diagnosis and treatment of the disease.

Cytokine called "macrophage migration inhibitor factor" is associated with D-DT protein. These cytokines increase inflammation in the central nervous system, stimulating the progression of the disease. The researchers found that they are related to the expression of MIF, a frequent genetic variation in those who suffer from the most severe forms of multiple sclerosis.

According to the study, a genetic screening would allow to identify the genetic MIF variant. In this way it would be possible to identify the most vulnerable subjects, with all the advantages of early diagnosis. The discovery also opens the doors to more targeted treatments, designed to act specifically on those who suffer from the most acute forms of sclerosis. It would simply be a simple genetic test to optimize the treatment with ad hoc drugs, saving time and money.

Scientists have to find out about clinical observations on patients with multiple sclerosis. These have been accompanied by immunological and genetic analysis of tissue samples taken from them. They also used data to support the efficacy of a previously developed drug that had only been tested on animal models.

Source: yale.edu

A woman is in menopause when it is at least one year since the last menstruation. It coincides with the end of feminine fertility and is a normal stage in each woman's life. It is not a disease, although sometimes it has negative consequences on physics, solvable only with pharmacological treatments.

We talk about menopause when the ovaries cease to produce estrogen, the reproductive hormones. It is a process that may be more or less long depending on the woman. Even the period following the last menstruation has a variable duration and thus the symptoms. While in some cases change is almost imperceptible, in others it has very important consequences on everyday life.

Physiological menopause occurs between the ages of 48 and 52, although there may be cases of early menopause. The most obvious symptoms, apart from cessation of the cycle, are the hot flashes and redistribution of body fat. However, the fluctuation and decline in estrogen levels have consequences also on the psychological side. In fact, there are frequent changes in mood, anxiety, depression, difficulty concentrating, and loss of libido.
Diagnostic tests are available to diagnose menopause. The appearance of symptoms is enough in most cases to signal the big change coming. However, a visit from the specialist is needed to break any doubts and to define a clear clinical picture.

Today, menopause is not avoidable, but you can prepare yourself to deal with it as painfully as possible. In view of change, it is good to adopt a healthy lifestyle: increasing physical activity and reducing calories fight weight gain. Since hormonal loss leads to an increase in cardiovascular risk, it is also recommended to stop smoking.

Researchers Eduardo Tolosa and Dolores Vilas have found a new mutation associated with Parkinson's disease. The discovery was made during a study of 62 Parkinson's patients held on the island of Minorca. For the time being, they identified the mutation on a single patient, a 74-year-old man.

Scholars are still looking for all the genetic causes of Parkinson's. To date, they have identified five possible genetic sites involved in the development of the disease. Nevertheless, in the case of ACMSD, they had not yet found any disease-related mutations. The first case was that identified by Spanish researchers. According to the two, this would be a rare variation that would increase the risk of developing Parkinson's.

The man with the mutation in the ACMSD gene had no case of Parkinson's in the family. Moreover, it did not show any of the most common mutations associated with the disease. Discovery suggests that the new mutation could be an important risk factor for Parkinson's development. Many scholars have already linked the gene to the disease, and no mutation has been reported.

The ACMSD gene encodes for an enzyme involved in the pathway of the kinurenine. Some kinurenine metabolites play an important role in the functioning of the central nervous system. In some cases, they can cause inflammation and common types of neurodegeneration in Parkinson's. Discovery could thus help to better understand the disease and develop new therapies.

Source: iospress.com

One of the most used tests to diagnose type 2 diabetes is influenced by 60 genetic variants. One of these variants, however, is only found in African American patients. This dramatically reduces the accuracy of the diagnosis and makes it necessary to think of an alternative. According to the authors of the study, genetic screening for this variant should be added to the standard blood test.

In the UK, diabetics are over 4 million and should reach 5 million by 2025. 90% of them suffer from type 2 diabetes, the most common form of obesity. For the diagnosis and monitoring of this form of diabetes, the HbA1c test is used. The test serves to measure blood sugar levels so that the progression of the disease is verified.

More than 200 scientists have studied genetic variants that could affect the outcome of the exam. They performed genetic screening of 160,000 diabetic subjects and European, African and Asian ancestors. Researchers have discovered 60 genetic variants that affect the HbA1c test results. Of these, 42 are new and one is present only in those with an African ancestor.

The G6PD gene variant influences the results of the HbA1c test, as it lowers blood sugar values. Thus increasing the risk of inaccurate and overly optimistic diagnosis. The variant affects about 11% of African Americans, on which the normal diagnostic tools are therefore much less effective.

Source: medicalxpress.com