Medical Bulletin 27/ July/ 2024

According to a recent study, cancer drugs could make thinking easier for individuals with Rett syndrome, a rare disorder linked to autism. This discovery could lead to therapies for patients with other neurological conditions.

The findings published in stem cell reports highlighted the role of microglia, a type of white blood cell found in the central nervous system, in the formation of the human brain. While research on these cells has advanced significantly in neurodegenerative disorders such as Alzheimer’s disease, amyotrophic lateral sclerosis (ALS), and multiple sclerosis, their role in early neural development has been less understood due to limited access to foetal tissue.

For the study, researchers used brain organoids — “mini brains,” essentially, that mimic the developing brain of an embryo — grown from skin-derived stem cells of consenting patients. Such organoids were created from individuals with Rett syndrome — a disorder primarily found in females that features loss of speech, purposeful use of hands, mobility and muscle tone, among other symptoms as well as from neurotypical individuals.

Results showed that the synapses of typical neurons experienced impaired functioning when Rett syndrome microglia were introduced, further confirming the role of the immune cell in brain function and development.

Faulty microglia make cognition even harder for Rett syndrome patients, who already contend with fewer and impaired synapses due to a loss of function in the MECP2 gene, implicated in other types of neurodevelopmental conditions as well.Other studies on Rett syndrome have highlighted potential therapeutic targets. But none so far have identified a potential treatment involving human microglial cells.

This study highlighted that a cancer drug may offer cognitive benefits for some individuals with autism. This finding opens up new possibilities for therapeutic interventions, potentially enhancing cognitive function and quality of life for those affected by autism. Preliminary results indicate that this drug could improve cognitive function and overall quality of life for those affected by autism. If confirmed, this approach could offer a new, effective option for addressing cognitive challenges associated with autism, representing a major step forward in therapeutic development.

In a recent study published in the journal Nutrition and Diabetes, researchers investigated whether the Mediterranean diet (MedDiet) influences the risk of gestational diabetes mellitus (GDM) and discovered that MedDiet before gestation or during pregnancy reduces the risk of gestational diabetes mellitus.

Gestational diabetes mellitus (GDM) is a pregnancy disorder caused by placental hormones interfering with insulin use, leading to health risks for mother and child. Effective blood glucose

Control through diet is crucial. High intake of saturated fats, carbs, and cholesterol increases GDM risk, while the Mediterranean diet (MedDiet), rich in whole grains, vegetables, legumes,and monounsaturated fats, reduces it. Multiple studies suggest the MedDiet lowers GDM risk, but a systematic review is needed to confirm these findings.

In the study, all relevant literature up to August 2023 was reviewed from various databases. Ten articles from 2012 to 2023, comprising two case-control and eight cohort studies, were analysed.

These studies involved 32,959,909 participants aged 18 to 45. MedDiet adherence was measured using MEDAS, AMED, and MSDPS scores, while GDM outcomes were determined by various glucose measurement criteria.

The results showed that higher adherence to the Mediterranean diet (MedDiet) significantly reduces the risk of gestational diabetes mellitus (GDM). Case-control studies showed a 75% reduction, while cohort studies reported a 20% reduction.

Subgroup analysis confirmed that the MedDiet benefits both Mediterranean and non-Mediterranean populations. The diet#39;s higher intake of whole grains, fruits, vegetables, nuts, olive oil, and legumes, along with its high polyphenol content, reduces oxidative stress and inflammation, key factors in GDM development.

The MedDiet’s role in reducing obesity and insulin resistance further lowers GDM risk. Additionally, long-term red meat consumption is linked to higher GDM risk, while MedDiet’s components, like whole grains and nuts, help regulate blood glucose levels and reduce appetite.

The findings highlighted that high adherence to the Mediterranean diet (MedDiet) before or during pregnancy is robustly associated with a reduced risk of gestational diabetes mellitus (GDM). Therefore, the MedDiet should be recommended to women of reproductive age to help prevent the development of GDM and other adverse pregnancy outcomes.

Reference: Jafari Nasab, S., Ghanavati, M., & Nasirian, M. (2024) Adherence to Mediterranean dietary pattern and the risk of gestational diabetes mellitus: A systematic review and meta-analysis of observational studies. Nutrition & Diabetes 14(1); 1-10. doi:10.1038/s41387-024-00313-2

Research being presented during the society for nutrition education and behaviours international conference 2024 in Knoxville found that greater consumption of pulses is associated with significant greater shortfall nutrient intake relative to the no-pulse dietary pattern.

Using data from the national health and nutritional examination survey, 2001-2018, researchers aimed to identify commonly consumed pulse dietary patterns in children and assess shortfall nutrient intakes and diet quality relative to children whose typical dietary pattern avoid pulses.

According to the findings, a dietary pattern comprising approximately 2 serving of pulses daily is associated with significantly higher total diet quality scores compared to the no pulse dietary plan. Children consuming approximately 2 servings of pulses daily have significantly higher dietary fibre, potassium, and choline intake relative to non-consumers of beans.

Research shows that pulses help meet micro nutrient demands in childhood and should be a part of children’s diet once solid food is introduced. Dietary patterns rich in beans and pulses are associated with significantly higher diet quality scores. Highest diet quality scores are associated with a 24% decreased risk of cardiovascular diseases, 31% reduced risk of coronary heart diseases, 20% lowered risk of stroke, 23% reduced risk of diabetes, and 6% decreased risk of cancer.

This research highlights that beans are a valuable source of essential nutrients, such as protein, fibre, vitamins, and minerals, which can help address common dietary deficiencies in children. By regularly including beans in their meals, children may experience better growth, improved energy levels, and a lower risk of developing chronic health issues. This finding underscores the importance of promoting bean consumption as part of a balanced diet for children to support their long-term health and well-being.

In a study published in the prestigious Journal of Clinical Investigation, researchers have discovered that individuals with Spinal Muscular Atrophy (SMA), a neurodegenerative condition, are at a higher risk of developing fatty liver disease. This discovery suggested that SMA patients may encounter additional health challenges over time, raising significant concerns about their long-term care and overall health outcomes.

Spinal Muscular Atrophy (SMA) is a rare genetic disorder that hinders the production of the essential Survival Motor Neuron protein, leading to progressive muscle weakness due to damaged motor neurons. Despite treatment advances improving survival rates, new research indicates that SMA’s impact extends beyond the nervous system, potentially affecting other organs like the liver.

Fatty liver disease is a condition characterised by an excessive buildup of fat in liver cells. It can lead to inflammation and liver damage and is often associated with conditions like heart disease, diabetes, and obesity. The disease can range from mild to severe, potentially resulting in liver scarring or dysfunction.

The multi-centre study, involving clinicians and researchers from leading institutions, revealed that the genetic mutation responsible for SMA reduces SMN protein levels in liver cells, impairing their ability to break down and utilise fat effectively. This explains the presence of fatty liver disease in SMA patients, which was detected in children as young as three years old via liver ultrasound scans. Importantly, editing the faulty gene in patients' stem cells to boost SMN production reversed the liver dysfunction caused by the mutation, establishing a direct link between the genetic defect and liver issues in SMA.

In conclusion, the findings highlighted the need to view Spinal Muscular Atrophy (SMA) as a multi- organ disorder and underscored the importance of comprehensive patient care. As treatments extend the lifespan of SMA patients, understanding the genetic mutation’s long-term effects on various organs is crucial for identifying new issues, developing effective treatments, and improving outcomes.

Reference: Leow, D. M.-K., et al. (2024). Hepatocyte-intrinsic SMN deficiency drives metabolic dysfunction and liver steatosis in spinal muscular atrophy. The Journal of Clinical Investigation. doi.org/10.1172/JCI173702.