reported<\/a> at the European Society of Human Genetics meeting in Gothenburg this week, the study also identified that an affordable and readily available form of vitamin B3 could help improve symptoms in these children.<\/p>\nIrena Muffels, MD, PhD, a clinical genetics resident at the Wilhemina Children\u2019s Hospital, was working at the Icahn School of Medicine at Mount Sinai, New York, when the study began. Two parents contacted the lab where she was working to ask if they could look into the condition their children had been diagnosed with, a rare form of early Parkinson\u2019s caused by mutations in the DHDDS gene.<\/p>\n
\u201cThey contacted Professor Eva Morava, for whom I was then working. We started creating mini-brains\u2014tiny blobs of brain tissue grown in the lab from patients\u2019 own cells\u2014thus avoiding the need to take samples directly from the children\u2019s brains,\u201d she explained.<\/p>\n
Muffels and colleagues observed these mini brains in the lab and found there were significant signs of deterioration after four months mirroring that seen in the brains of children with this rare condition.<\/p>\n
In healthy cells, DHDDS helps make dolichol, a small fat-like molecule that acts as a platform for attaching sugars to proteins. When DHDDS doesn\u2019t work properly, dolichol levels fall. As a result, cells struggle to attach sugar chains, called glycans, to proteins in the usual way.<\/p>\n
Those glycans are important because they help proteins fold correctly, reach the right place in the cell, and function as they should. In the patient\u2011derived mini brains, the team could see that these sugar chains were formed incorrectly.<\/p>\n
Low dolichol also disrupts overall lipid regulation and causes cholesterol to build up in astrocytes, the brain\u2019s supportive cells. \u201cThis accumulation builds over time, and this is why we think the disease progresses,\u201d said Muffels, \u201csince the accumulation of cholesterol leads to mitochondrial dysfunction, leading in turn to reduced energy production.\u201d<\/p>\n
Perlara, a rare\u2011disease biotech public benefit corporation that runs phenotypic screens in simple \u2018patient avatar\u2019 organisms, helped Muffels and colleagues identify nicotinamide mononucleotide, a naturally occurring type of vitamin B3, in a yeast\u2011based assay as a potential modifier of DHDDS\u2011driven cellular stress.<\/p>\n
The vitamin appeared to have positive effects on the mini brains, and when the families of patients heard about it, they began using the supplement as it is readily available without a prescription and known to be safe. Within a few weeks, the patient\u2019s walking got better and they had more energy and less tremors.<\/p>\n
\u201cThe word about nicotinamide mononucleotide reached more DHDDS patients, and we currently have 12 patients taking it. We recently received funding from Congenital Disorders of Glycosylation UK\u2026 \u00a0to start an international trial for nicotinamide mononucleotide supplementation in DHDDS-related disease,\u201d said Muffels.<\/p>\n
\u201cPatients will take nicotinamide mononucleotide for a year and will be evaluated every three months. Although I have now left the U.S., I hope that the Wilhemina Hospital in Utrecht will be one of the official sites and that I may continue to work with these patients.\u201d<\/p>\n","protected":false},"excerpt":{"rendered":"Credit: wildpixel \/ iStock \/ Getty Images Plus Brain organoids created in the lab using patient cells have…\n","protected":false},"author":2,"featured_media":741893,"comment_status":"","ping_status":"","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[10],"tags":[10454,49,48,84,72395,34113,10777,34114,26095,16103,50489,13326,16463,266174],"class_list":["post-741892","post","type-post","status-publish","format-standard","has-post-thumbnail","category-health","tag-brain","tag-ca","tag-canada","tag-health","tag-molecular-dx","tag-news-features","tag-parkinsons-disease","tag-patient-care","tag-phenotype","tag-precision-medicine","tag-rare-diseases","tag-topics","tag-translational-research","tag-vitamin-supplementation"],"_links":{"self":[{"href":"https:\/\/www.newsbeep.com\/ca\/wp-json\/wp\/v2\/posts\/741892","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.newsbeep.com\/ca\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.newsbeep.com\/ca\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.newsbeep.com\/ca\/wp-json\/wp\/v2\/users\/2"}],"replies":[{"embeddable":true,"href":"https:\/\/www.newsbeep.com\/ca\/wp-json\/wp\/v2\/comments?post=741892"}],"version-history":[{"count":0,"href":"https:\/\/www.newsbeep.com\/ca\/wp-json\/wp\/v2\/posts\/741892\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.newsbeep.com\/ca\/wp-json\/wp\/v2\/media\/741893"}],"wp:attachment":[{"href":"https:\/\/www.newsbeep.com\/ca\/wp-json\/wp\/v2\/media?parent=741892"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.newsbeep.com\/ca\/wp-json\/wp\/v2\/categories?post=741892"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.newsbeep.com\/ca\/wp-json\/wp\/v2\/tags?post=741892"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}
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Credit: wildpixel \/ iStock \/ Getty Images Plus<\/p>\n