Urine test for detecting aging

Researchers find that a substance indicating oxidative damage increases in urine as people get older. Aging Neuroscience described a way to measure levels of this marker in human urine samples. The new marker potentially provides a method to measure how much human body has aged-biological rather than chronological age.

Everyone born in the same year has the same chronological age,  the bodies of different people age at different rates. This means that the risk of many diseases increases with age, the link between age in years and our health and lifespan is relatively loose. Many people enjoy long lives, relatively free of disease, while others suffer chronic illness and premature death.

The rate of cellular damage can vary from person to person, and may be dictated by genetics, lifestyle and the environment we live in. This cellular damage may be a more accurate indication of  biological age than the number of years. Measuring biological age could predict the risk of developing age-related diseases and death.

One mechanism thought to underlie biological aging involves a molecule vital to human survival- oxygen-the free radical theory of aging. Oxygen by-products produced during normal metabolism can cause oxidative damage to biomolecules in cells, such as DNA and RNA," explains Jian-Ping Cai, a researcher involved in the study. "As we age, we suffer increasing oxidative damage , and so the levels of oxidative markers increase in our body."

One such marker, with the catchy name of 8-oxo-7,8-dihydroguanosine-or 8-oxoGsn for short-results from oxidation of a crucial molecule in our cells called RNA. In previous studies in animals, Cai and colleagues found that 8-oxoGsn levels increase in urine with age. To see if this is true for humans as well, the researchers measured 8-oxoGsn in urine samples from 1,228 Chinese residents aged 2-90 years old, using a rapid analysis technique called ultra-high-performance liquid chromatography. Age-dependent increase in urinary 8-oxoGsn in participants 21 years old and older."

Therefore, urinary 8-oxoGsn is promising as a new marker of aging. Levels of 8-oxoGsn were roughly the same between men and women, except in post-menopausal women, who showed higher levels. This may have been caused by the decrease in estrogen levels that happens during menopause, as estrogen is known to have anti-oxidant effects. Urinary 8-oxoGsn may reflect the real condition of human body better than chronological age, and may help us to predict the risk of age-related diseases.
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New genetic analysis for diagnosis of mitochondrial disease

Mitochondria are the power plants of cells, breaking down molecules from sugars, fats and proteins to generate energy for the human body.

Mitochondrial disease is an inherited chronic illness that can be present at birth or develop later in life. It causes debilitating physical, developmental, and cognitive disabilities.

Common symptoms are loss of muscle coordination, muscle weakness, pain, seizures, hearing loss, learning disabilities and organs failure.

Genetic analysis could improve diagnostic rates for children with fatal mitochondrial diseases. Mitochondrial diseases can affect babies, older children and adults.

Scientists have shown a new approach to UK baby Charlie Gard who suffered from mitochondrial DNA depletion syndrome. New diagnostic methods like whole exome sequencing can quickly sequence a person's entire genetic blueprint.

Scientists have discovered a new cause of mitochondrial disease, which affects the ability of the mitochondria to operate as the body's power plant and converting food into energy.

Researchers found mutations in a gene called MRPS34, in six patients with the most common form of childhood mitochondrial disease. They used quantitative proteomics which involves sampling all the proteins in a cell at once to identify any problems with the cellular machinery, this reveals what is going on in the cells.

The MRPS34 gene is one of 80 components of the mitochondrial protein synthesis machinery, called 'mitoribosome'. Scientists carried out the quantitative proteomics technique, examining cellular proteins in the patient's cultured skin cells, against healthy skin cells.

 They discovered that the cells could not make the key proteins encoded by mitochondrial DNA. It also showed that two of the five major components of the power plants are falling apart, causing the machinery that fuels the body's energy to break down.

MRPS34 was the 25th mitochondrial disease gene discovered by scientists and one of the first in the world to show that quantitative proteomics could play a key role in improving diagnostic rates.

This discovery can put an end to wrong diagnosis of children suspected of mitochondrial and other inherited diseases. Early diagnosis improves the chance for early intervention. It can also provide the opportunity to enrol patients with mitochondrial diseases into clinical trials to test many new promising therapies on them.
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