Brooke Greenberg (born January 8, 1993), is a now 20 year old girl from Reisterstown, Maryland, who has remained physically and cognitively similar to a toddler. She is about 30 inches (76 cm) tall, weighs about 16 pounds (7.3 kg), and has an estimated mental age of 9 months to 1 year. Brooke’s doctors have termed her condition Syndrome X.
Brooke was born on January 8, 1993 at Sinai Hospital in Baltimore, Maryland, one month prior to her due date, weighing just four pounds (1.8 kg). She was born with anterior hip dislocation, a condition which caused her legs to be swiveled upwards, awkwardly, toward her shoulders; this was corrected surgically. Otherwise, Brooke appeared to be a normal infant.
In her first six years, Brooke Greenberg went through a series of unexplained medical emergencies from which she recovered. She had seven perforated stomach ulcers. She also suffered a seizure. This was followed by what was later diagnosed as a stroke; weeks later, no damage was detected. At age five, Brooke had a mass in her brain that caused her to sleep for 14 days. The doctors diagnosed the mass as a brain tumor. However, Brooke later awoke, and physicians found no tumor present. Brooke’s pediatrician, Dr. Lawrence Pakula, states that the source of her sudden illness remains a mystery.
Over the past several years, the Greenbergs visited many specialists, looking for an explanation for their daughter’s strange condition, and found she has a mutation in Chromosome 1. In 2001, when Dateline documented Brooke, she was still the size of a six-month-old infant, weighing just 13 lb (5.9 kg) at 27 inches (69 cm) tall. The family still had no explanation. Brooke Greenberg’s mother Melanie said: “They [the specialists] just said she’ll catch up. Then we went to the nutritionist, the endocrinologist. We tried the growth hormone…”. The growth hormone treatment had no effect. Howard, Brooke’s father, said: “I mean she did not put on an ounce or she did not grow an inch … That’s when I knew there was a problem.” After the growth hormone administration failed, the doctors, unable to diagnose a known condition, named her condition Syndrome X.
The Greenbergs made many visits to nearby Johns Hopkins Children’s Center, and even took Brooke to New York’s Mount Sinai Hospital, searching for information about their daughter’s condition. When geneticists sequenced Greenberg’s DNA, they found that the genes associated with the premature aging diseases were normal, unlike the mutated versions in patients with Werner syndrome and progeria.
In 2006, Dr. Richard Walker of the University of South Florida College of Medicine, said that Brooke’s body is not developing as a coordinated unit, but as independent parts that are out of sync. She has never been diagnosed with any known genetic disorder or chromosomal abnormality that would help explain why.
In 2009, Walker said: “There’ve been very minimal changes in Brooke’s brain … Various parts of her body, rather than all being at the same stage, seem to be disconnected.” Walker noted that Greenberg’s brain, for example, is not much more mature than that of a newborn infant. He estimates her mental age at around 9 months to a year old. Brooke can make gestures and recognize sounds, but cannot speak. Her bones are like those of a ten-year-old, and she still has her baby teeth, which have an estimated developmental age of about 8 years. Said Walker, “We think that Brooke’s condition presents us with a unique opportunity to understand the process of aging.” Her telomeres seem to be shortening at the normal rate.
Yesterday, Brooke Greenberg and her family appeared on the Katie Couric Show as part of a show focused on medical mysteries. Greenberg, who is 20 years old, appears to be the age of a toddler. While the family does not know the root of Greenberg's apparent inability to age, Mount Sinai's Eric Schadt, who also appeared on the show with host Katie Couric, has been studying her genome. As Schadt notes in the clip below, in addition to figuring out the source of her disorder, Greenberg's genome could also help researchers learn more about the aging process.
Researchers from the Instituto de Medicina Oncológica y Molecular de Asturias have found that a protein responsible for accelerated aging disorders can dramatically slow down the spread of cancers.
The team revealed that prelamin A, responsible for accelerated ageing in a condition called progeria, can prevent the progression of malignant or cancerous tumours. They achieved this by using mosaic mouse models, genetically modified mice bearing the protein prelamin A in half of their cells.
Ageing and cancer are intimately related processes, but their links are complex. The risk of developing tumours increases with age, but some of the mechanisms favouring ageing can also slow down the appearance and development of cancer. The results from this study represent an advance in the understanding of the underlying biological mechanisms that link age and cancer development, as well as possible new drug targets in the future.
"Mice with prelamin A in all their cells age more quickly and do not live longer than 4-5 months, which extremely hampers the study of cancer, as there is no time for the disease to fully develop,"indicates Jorge de la Rosa.
Researchers previously developed mice that have an underactive ZMPSTE24 gene that mimic the ageing disorder progeria to test for possible treatments. This causes the protein prelamin A to accumulate and in turn results in progeria. To better study the association of ageing and cancer development, the team developed a mosaic model where ZMPSTE24 was underactive in half of the cells and working normally in the other half of the cells.
"Mosaic mice, however, live as long as normal mice, up to two to three years, and they keep 50% of cells with prelamin A in all their tissues throughout lifespan, which has permitted us to study the effect of this protein on cancer," comments Juan Cadiñanos.
The team found that the mosaic mice were completely healthy, without any of the physical deformities shown by mice with prelamin A-induced progeria: reduced size and weight, loss of fat, infertility and premature death. This suggests that it might not be necessary to correct the defects in all the cells of patients with progeria, but only some. These results provide hope for a successful treatment of patients with progeria in the future.
A new study indicates that scientists have found a new way of delaying the aging process in mice, and they hope to replicate the finding in people. The research was built upon an earlier study that shed light on progeria, a rare genetic disease that prematurely ages one in four million babies.
A mutation was found in the Lamin A protein, which lines the nucleus in human cells, disrupting the repair process and accelerating aging. They also found that normal and healthy Lamin A binds to and activates the gene SIRT1, which has been long associated with longevity. If scientists can develop drugs that mimic Lamin A or increase the binding between Lamin A and SIRT1, this may lead to anti-aging drugs.
The team also examined if the binding efficiency was boosted with resveratrol, a compound found in the skin of red grapes. Mice fed with concentrated resveratrol fared significantly better than healthy mice that weren’t given it and the onset of aging was delayed and the life expectancy was extended. Mice with progeria lived 30% longer when fed with resveratrol compared with progerial mice not given the compound.
Two leading neurology researchers have proposed a theory that could unify scientists’ thinking about several neurodegenerative diseases and suggest therapeutic strategies to combat them. The theory and backing for it are described in the September 5, 2013 issue of Nature.
Mathias Jucker and Lary Walker outline the emerging concept that many of the brain diseases associated with aging, such as Alzheimer’s and Parkinson’s, are caused by specific proteins that misfold and aggregate into harmful seeds. These seeds behave very much like the pathogenic agents known as prions, which cause mad cow disease, chronic wasting disease in deer, scrapie in sheep, and Creutzfeldt-Jakob disease in humans.
Walker is research professor at Yerkes National Primate Research Center, Emory University. Jucker is head of the Department of Cellular Neurology at the Hertie Institute for Clinical Brain Research at the University of Tübingen and the German Center for Neurodegenerative Diseases.
Unlike prion diseases, which can be infectious, Alzheimer’s, Parkinson’s, and other neurodegenerative diseases can not be passed from person to person under normal circumstances. Once all of these diseases take hold in the brain, however, it is increasingly apparent that the clumps of misfolded proteins spread throughout the nervous system and disrupt its function.
The authors were the first to show that a protein that is involved in Alzheimer’s disease – known as amyloid-beta – forms prion-like seeds that stimulate the aggregation of other amyloid-beta molecules in senile plaques and in brain blood vessels. Since then, a growing number of laboratories worldwide have discovered that proteins linked to other neurodegenerative disorders also share key features with prions.
Age-related neurodegenerative disorders remain stubbornly resistant to the discovery of effective treatments. Jucker and Walker propose that the concept of pathogenic protein seeding not only could focus research strategies for these seemingly unrelated diseases, but it also suggests that therapeutic approaches designed to thwart prion-like seeds early in the disease process could eventually delay or even prevent the diseases.
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