Down syndrome points to key gene responsible for type 2 diabetes

One of the key genes responsible for the onset of type 2 diabetes has been identified, opening up possibilities to develop a drug to combat the condition.

Key points

• Onset of type 2 diabetes caused by failure of beta cells in the pancreas
• Failure of beta cells also often seen in people with Down syndrome, who have an extra copy of chromosome 21
• Comparison of beta cell genes on chromosome 21 and in people with type 2 diabetes narrows down one common gene called RCAN1

The discovery, published today in PLOS Genetics, was made by comparing genes involved with defects in insulin secretion of people with type 2 diabetes and those with Down syndrome.

Diabetes is the fastest-growing chronic condition in Australia with the preventable type 2 form accounting for 85 per cent of all cases.

Read more: Down syndrome points to key gene responsible for type 2 diabetes

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Bipolar, autism, and schizophrenia might share genetic origin

A new, in-depth genetic study, published in JAMA Psychiatry, finds a potential link between bipolar disorder, schizophrenia, and autism. Although the findings are tentative, they open the door to new avenues of investigation.

Bipolar disorder, previously called manic depression, causes dramatic shifts in mood, along with swings in activity and energy levels.

Thought to affect almost 1 to 3 percent of Americans, bipolar disorder can be an incredibly disruptive condition.

Bipolar disorder is thought to share a common genetic origin with a number of other psychiatric conditions. Although evidence of this connection is growing, the search is still in its infancy.

New research, led by Dr. James Potash, puts another gene-shaped piece in the jigsaw. The study was a joint venture, conducted at the University of Iowa Carver College of Medicine, Johns Hopkins School of Medicine in Baltimore, MD, and Cold Spring Harbor Laboratory, NY.

Read more: Bipolar, autism, and schizophrenia might share genetic origin

The genetics behind psychiatric disorders are slowly revealed.

Source: medicalnewstoday

New gene testing method can identify mutations, prioritize variants in breast and ovarian cancer genes

A research team led by an award-winning genomicist at Western University has developed a new method for identifying mutations and prioritizing variants in breast and ovarian cancer genes, which will not only reduce the number of possible variants for doctors to investigate, but also increase the number of patients that are properly diagnosed.

These potentially game-changing technologies, developed by Peter Rogan, PhD, students and his collaborators from Western's Schulich School of Medicine & Dentistry, reveal gene variants that were missed by conventional genetic testing.

Their method, described in BMC Medical Genomics, was first applied to 102 individuals at risk or with a diagnosis of inherited breast cancer. The team also studied 287 women with no known mutations for an article published in Human Mutation.

Rogan, Canada Research Chair in Genome Bioinformatics, says that 16 to 20 per cent of women in southwestern Ontario, who have their BRCA genes tested for breast and/or ovarian cancer risk, carry disease-causing gene variants that are well-understood by clinicians and genetic counselors. If a patient tests positive for an abnormal BRCA1 or BRCA2 gene and have never had breast cancer, there is a much higher-than-average risk of developing the deadly disease.

Read more: New gene testing method can identify mutations, prioritize variants in breast and ovarian cancer genes

Source: azonano

Human sperm created from mature skin cells for infertility solution

Scientists in Spain say they have created human sperm from skin cells, which could eventually lead to a treatment for infertility.

The researchers said they were working to find a solution for the roughly 15 per cent of couples worldwide who are unable to have children and whose only option is to use donated gametes (sperm or eggs).

"What to do when someone who wants to have a child lacks gametes?" asked Dr Carlos Simon, scientific director of the Valencian Infertility Institute, Spain's first medical institution fully dedicated to assisted reproduction.

"This is the problem we want to address: to be able to create gametes in people who do not have them."

The result of their research, which was carried out with Stanford University in the United States, was published on Tuesday in Scientific Reports, the online journal of Nature.

Read more: Human sperm created from mature skin cells for infertility solution

Infertile sperm cells were created by adding genes to skin cells

Source: ABC News Breakfast

Obesity, stress and even cellphone use can influence men's ability to conceive

Certain lifestyle factors are linked to higher rates of damage in the genetic material in men’s sperm. This could affect men’s ability to conceive as well as the genes they pass on to their children.

According to researchers, the damage may stem from factors such as obesity, stress and even cellphone use.

Semen analysis usually looks at the numbers and the condition of whole sperm. But the authors of a small study in Poland believe the degree of breakage, or fragmentation, in DNA strands in the sperm might be a better indicator of fertility. DNA carries the cell’s genetic information and hereditary characteristics.

Men with fragmentation have lower odds of conceiving naturally and through such procedures as in vitro fertilization, the scientists write in the International Journal of Impotence Research.

Researchers have noticed before that lifestyle factors can influence the level of sperm DNA fragmentation, said Ricardo P. Bertolla of Sao Paulo Federal University in Brazil, who was not part of the new study.

Read more: Obesity, stress and even cellphone use can influence men's ability to conceive

In a new study, older men and those with higher work stress had more fragmentation of the DNA in
their sperm, which might affect their ability to conceive as well as the genes they pass on to their children.

Source: De Agostini/Getty Images

How about having your DNA analyzed?

Your DNA is a bit like a crystal ball.

It’s strange to think at our core there might be a strand that dictates how much of our life plays out. It can influence a person’s chance of becoming a supermodel, a sufferer of an acute disease, having a sweet tooth or going grey at the age of 21.

So if someone offered to take a look at your DNA for you, would you take them up on the offer?

Life Letters is an Australian company that will analyse your DNA for $540.

The test has been created to let prospective parents know the risk of passing 148 genetic faults on to their children. These include cystic fibrosis, Tay-Sachs, haemophilia, spinal muscular atrophy and fragile X syndrome. In some instances they may find something in your DNA that could affect your personal health in the long term, but the main focus is what you’ll potentially pass on to your children.

The tests can be purchased online, you don’t need a doctor’s referral and at the end you have a consultation with a genetic counsellor over the phone who makes sure you understand the information and can make educated decisions.

Read more: How about having your DNA analyzed?

Do you want to know the story your DNA tells?

Source: news.com.au

Recent Progress in Genome Editing

Researchers develop a CRISPR-based technique that efficiently corrects point mutations without cleaving DNA.

Most genetic diseases in humans are caused by point mutations—single base errors in the DNA sequence. However, current genome-editing methods cannot efficiently correct these mutations in cells, and often cause random nucleotide insertions or deletions (indels) as a byproduct. Now, researchers at Harvard University have modified CRISPR/Cas9 technology to get around these problems, creating a new “base editor,” described today (April 20) in Nature, which permanently and efficiently converts cytosine (C) to uracil (U) bases with low error in human and mouse cell lines.

“There are a lot of genetic diseases where you would want, in essence, to swap bases in and out,” said Jacob Corn, scientific director of the Innovative Genomics Initiative at the University of California, Berkeley, who was not involved in the research. “Trying to get this to work is one of the big challenges in the field, and I think this is a really exciting approach.”

Read more: Recent Progress in Genome Editing

Illustration of DNA ligase, one of the cell proteins involved in repairing double-strand breaks in
DNAWIKIMEDIA; WASHINGTON UNIVERSITY SCHOOL OF MEDICINE IN ST. LOUIS

Source: wikimedia

Genetic variants influencing kidney disease progression

A new study suggests that patients with focal segmental glomerulosclerosis - a type of kidney disease - may have a more advanced form of the condition at diagnosis if they possess certain genetic variants, with this association being strongest among African Americans.

The researchers, including Dr. Jeffery Kopp of the National Institutes of Health, publish their findings in the Journal of the American Society of Nephrology.

Focal segmental glomerulosclerosis (FSGS) is scarring in kidney tissue that affects more than 5,000 people in the US every year. Symptoms of the condition include foamy urine (caused by excess protein), weight gain, swelling (caused by excess body fluids) and poor appetite.

According to the researchers, FSGS is known to be more common among African Americans; compared with European Americans, African Americans are four times more likely to develop the condition.

Previous research has indicated that African Americans are at higher risk of chronic kidney disease (CKD) due to variants in apolipoprotein L1 (APOL1) - a gene that makes a protein that forms a part of high-density lipoprotein (HDL), referred to as "good" cholesterol. Around 5 million African Americans possess such variants.

Read more: Genetic variants influencing kidney disease progression

The researchers found that 72% of African American participants with FSGS - a form of kidney disease
- had variants in the APOL1 gene.

Source: medicalnewstoday

Unlocking the secret to healthy aging!

A new study may bring us closer to unlocking the secret to healthy aging, after uncovering an array of genetic variants among healthy, elderly individuals that may protect against Alzheimer's and heart disease.

The findings come from the ongoing "Wellderly" study, in which researchers have so far applied whole genome sequencing to the DNA of more than 1,400 healthy individuals from the US aged 80-105 years.

Launched in 2007, the study aims to pinpoint certain genetic variants that may contribute to lifelong health.

"This study is exciting because it is the first large one using genetic sequencing to focus on health," says Michael Snyder, PhD, chairman of the Department of Genetics at Stanford University in California, who was not involved with the research.

"Most of the world's scientists are studying disease, but what we really want to understand is what keeps us healthy. That is what the Wellderly study is all about."

Read more: Unlocking the secret to healthy aging!

Researchers have uncovered some of the secrets of healthy aging with their new gene study.

Source: medicalnewstoday