Introduction

Scientists have identified the cause of the chronic condition of cold hands that affects hundreds of millions of people worldwide, known as Raynaud’s disease.

Genetic Mutations Associated with Raynaud’s Disease

The first study of its kind found that people diagnosed with Raynaud’s syndrome (or Raynaud’s phenomenon) have mutations in two genes, one associated with stress and the other with fetal development.

Potential Treatment Options

Scientists say the discovery could open up new treatment options that target the underlying genetic cause of the disease.

Understanding Raynaud’s Disease

In people with Raynaud’s disease, blood stops flowing properly to the fingers and toes, which can cause the skin to turn white or blue.

Raynaud’s disease, which affects an estimated 2 to 5 percent of people, causes tiny spasms in the blood vessels, cutting off the blood supply to certain areas of the body—most commonly the fingers, but sometimes also the toes, ears, and fingertips.

Symptoms and Complications

Symptoms of pain, numbness, or tingling may last from a few minutes to several hours. In more serious cases, it can cause severe pain or ulcers.

According to the British Health Service, this can happen when the affected person feels cold, anxious, or stressed.

Genetic Study on Raynaud’s Disease

In a new study published by Nature Communications, a team of scientists from the UK and Germany conducted the largest genetic study of the disease.

They used electronic health records from the UK Biobank, a database containing the genetic and medical information of 439,294 people.

Key Findings

The team identified 5,147 people diagnosed with Raynaud’s disease and found a variation in two genes that predisposes people to developing the syndrome.

One difference was the alpha-2 adrenergic receptor, or ADRA2A. It is a stress receptor that causes small blood vessels to constrict.

The second difference is IRX1, a type of protein that has been shown to be involved in early embryonic development and cell differentiation, and also regulates the ability of blood vessels to dilate.

The study also found that low blood sugar could have a “detrimental effect” on people with Raynaud’s disease.

Validation from Additional Data

The scientists also repeated some of their findings using data from participants of British, Bangladeshi, and Pakistani origin from the Queen Mary Genetics and Health Study.

Potential Treatment Approach

The team said their findings could help develop the first effective treatment for people with Raynaud’s disease.

In the paper, the team suggests that the widely used antidepressant mirtazapine, which inhibits ADRA2A function, could be repurposed and tested as a potential treatment.

Source:

Metro