Restless Legs Syndrome
9,922 members6,103 posts

Genetic research

Has anyone done any genetic testing or do people find this runs in your family? I think my elderly mom has it too but she's got so much else going on she doesn't really realize how much it's affecting her Mine varies a lot in intensity My ferritin is still only 20 after years of trying to get it to go up (started at 7) I'm seeing a hematologist next month

Meanwhile this research is interesting

sleepreviewmag.com/2017/11/...

21 Replies
oldestnewest

I get the impression you are nee to the forum. If so, welcome! Lots of info here and always someone to share your thoughts and ideas with.

Too bad about your ferritin. It will be interesting to hear what your heamatologist will say and can do. What have you been doing to raise it? I hope you will find a way to raise your ferritin; it may be instrumental in your rls.

I knew about the recent research into the genetics, but it is not going to help us directly. It may in the very long run help to find causes and possible cures. If you have (or lack) these identified genes, it only means you have a higher change of getting rls; it doesn’t mean you will get it.

1 like
Reply

Usually if you have Primary RLS the inherited type, then raising your ferritin level would probably not help. Secondary RLS can be having a low ferritin level and raising it could help with RLS symptoms. I have Primary RLS, my father had it altho did not know he did way back then. But i know he used to sit at the side of the bed and thump his legs and my mum's sleep was always disrupted. So, when my legs started to play up and i did research i then knew thats what my father had, i also have a brother who suffers with RLS too. My RLS has progressed as i have got older. which it is known to do. My last test to check my ferritin level my number was 108 so that made no difference in my RLS.

3 likes
Reply

My understanding of primary RLS is that it often runs in families. There may be several versions of primary RLS but I understand that one at least of them is to do with how iron works in the affected part of the brain so it doesn't get transported or used like other non RLS folk so you need to try to raise the levels way above normal for it to be able to work properly but the body has a natural 'stop absorbing iron' mechanism when it registers what would be a usual normal level and researchers are trying to find the best way to do this. The researchers at John Hopkins have found from post mortems that in the relevant part of the brain iron is often lacking in primary RLS

Secondary is when there is another medical condition which causes or contributes such as neuropathy, Parkinson's or actual iron deficiency caused by various things.

Correct me if I'm wrong but that is my understanding of it just now

Reply

Primary RLS where its inherited from a parent, its genetic. Its the ferritin level that can relate to RLS that comes under Secondary RLS.

Reply

My understanding is that probably in the largest percentage or RLS sufferers there's no shortage of iron or anything else associated with dopamine production nor a shortage of dopamine – the problem is that they/we have too few post-synaptic receptors.

Generally, I think it's the case that not all iron-deficient people develop RLS and the presence or lack of certain genes only points to a disposition to getting RLS (as with some cancers, I guess).

Regarding how iron related the gene problem might be you might want to read the "Discussion" of this paper "Three possible causes may contribute to the failure of our candidate approach to detect RLS-associated genes among a set of iron-related genes. ..."

ncbi.nlm.nih.gov/pmc/articl...

Accoring to Wikipedia:

"Three genes, MEIS1, BTBD9 and MAP2K5, were found to be associated to RLS. Their role in RLS pathogenesis is still unclear. More recently, a fourth gene, PTPRD was found to be associated to RLS."

en.wikipedia.org/wiki/Restl...

Reply

No one in my family

Reply

This is Dr Early talking about the role of iron. Notice he refers to the Ferritin level for RLS, and at the end he says raising the ferritin level has helped half of the population, not sure that he has treated half the population lol probably means half of those he has treated, so the other half means it didnt make any difference. Which is why we say on here raising your ferritin level is not the answer for everyone.

1 like
Reply

I keep hoping that I'll be one of those where iron is implicated .. .... so far no effect! There has to be a cause or probably several causes. Hadn't heard of the post synaptic receptors story - hope I don't have that version ........

Reply

I asked a dietician just the other day about increasing my Ferritin level which is currently 100. She said that the only way she knew was by taking iron every night. She approved of ferrous diglycinate daily but her new twist was to swallow a couple of vitamin C tablets with the iron tablet. Chew up the vitamin C and then throw in the iron tablets and swallow the lot. She insists that it works better that way. I have only done this for two nights so in a month I will see what the effect is. I take 2 x 45mg diglycinate and 1500mg of Vitamin C.

Reply

And I've read that in some folk raising the ferritin to above 100 isn't enough and to make a difference it has to be around 200. It's getting it up there which is tricky. Some folk are given iron infusions as that bypasses the absorption mechanism but I think can sometimes be risky due to allergic reactions IV

Reply

My last serum ferritin reading was 220 and I still have RLS.

Just for the heck of it here are the other readings of my blood test:

SERUM LIPIDS normal, no action

SERUM CHOLESTEROL 4.9mmol/L

SERUM HDL CHOLESTEROL LEVEL 1mmol/L

SERUM CHOLESTEROL/HDL RATIO 4.9

SERUM TRIGLYCERIDES 1.5mmol/L

CALCULATED LDL CHOLESTEROL LEVEL 3.22mmol/L

SERUM NON HDL CHOLESTEROL LEVEL 3.9 mmol/L

SERUM MAGNESIUM LEVEL 0.93mmol/L normal, no action (0.7 – 1.0)

UREA AND ELECTROLYTES normal, no action

SERUM SODIUM 140mmol/L (133 - 146)

SERUM POTASSIUM 4.3mmol/L (3.5 – 5.3)

SERUM CREATINE 93mmol/L (64 – 104)

eGFRcreat (CKD-EPI) / 1.73 m * 2 71 units=*

LIVER FUNCTION TEST normal, no action

SERUM TOTAL PROTEIN 71 g/L (60 – 80)

SERUM ALBUMIN 39 g/L (35 – 50)

SERUM GLOBULIN 32 g/L (20 – 35)

SERUM BILIRUBIN LEVEL 11 umol/L (<29)

SERUM ALKALINE PHOSPHATASE 105 u/L (30 – 130)

SERUM ALT LEVEL 25 u/L (<70)

dated 30/09/2017

I do not know enough to understand these readings; it would seem all are in the correct range but I still have RLS. Maybe other minerals etc have to be higher, as well as ferritin? Or maybe it is too individual to make comparing notes useful?

Neil

Reply

Hi Neil, in NL there are several sites that give the values for the various blood tests; lower and macimum valuea for men and women separately or combined. I also found one explaining what these values mean and what they may indicate. One was called “labresults” and one from a society on clinical chemistry and laboratory medical science.

I guess there will be similar websites in the UK. I should have given you sufficent words to start googling.

Maybe worth posting the link when you find useful sites?

Reply

Hi LotteM, I will at some time, research what these results detail, but right now I am happy that a lot of readings are well in the range needed. Knowing me I will have to delve in soon though, and I will post links and info because it may be useful to some.

I am reading "The LDN Book" at the moment and it is totally absorbing, describing processes for RLS and other diseases at neuro level. Hard going and complicated but fascinating. I must remember that reading doesn't mean understanding enough to include stuff in my posts though. I am not young enough to know everything :)

Thanks for your prompt.

2 likes
Reply

These are all normal I'm pretty sure. And as far as current knowledge is concerned I don't think there's anything to suggest that any minerals need to be higher than within normal range and you're obviously one of the ones for whom a high ferritin makes no difference.

The one thing I read about recently in a research paper was that low vitamin D levels can be a cause & in the U.K. many of us have that. My GP measured mine & it was on the low side & prescribed me high dose Vit D. Made no difference but it might to you.

Reply

My Vit D was on the low side and my doctor prescribed me some Vit.D pills they made no difference to my RLS. Our ferritin level is what all the RLS experts say can relate to RLS. I have never heard them mention that other vitamins etc make any difference to having RLS.

Reply

Thank you. I found out the value of Vit D in the video LDN The Game Changer (starts with view of St Georges Hospital London) - I say that because there are several Game Changer videos online.

A doctor who uses LDN in his practice prescribes his cancer patients around 10,000 units of Vit D with their LDN and personally takes 15,000 units. (appears 20 mins into the video).

I don't know how that translates into a dose helping RLS or which compound he is referring to but I want to try it (Does it help with S.A.D?)

When pregab stops helping I would like to try LDN (no side effects worth mentioning) for my RLS. Because it is cheap to obtain the pharma companies won't do trials to get FDA approval as there is insufficient profit.

I could buy it from Dickson's compounding pharmacy in Glasgow who are the UK experts at this time - about £12 to £20 per month. "The LDN Story" video shows an interview with Steven Dickson.

Sorry I have gone way off the subject. Can you remember the compound and strength of your Vit D please?

Reply

My Vit D is 800iu capsules called Fultium D3 - Colecalcuferol 800iu equivalent to 20 micrograms Vit D3 ( just read off pack as still take at times as good not to be low for other reasons ). The dose was 4 tabs daily for 12 weeks then reduce to 1 or 2. This is higher than can be bought over the counter I was told but needed to raise from low levels

Reply

Hello Alison7, thanks for the info. I think that would be VitD3 at 20mcg or 0.02mg. Is the reduction to 1 or 2 tabs a long-term daily maintenance dose?

I see that 2/2 have experienced no improvement. To avoid wasting NHS money should I buy the highest strength D3 I can find and try it out?

Is the lack of RLS symptoms the only way I can see benefit?

Sorry so many questions

Neil

Reply

The Vit.C helps to absorb the iron. :)

Reply

RLS is definitely genetic in many people. Some have it as an aftereffect of some trauma. In my case both parents had it, my brother and sister have it and two of my three daughters have it in varying degrees.

Cheers

Graham

Reply

Yes, definitely an inherited aspect in quite a few. I thought that where ferritin was involved the inheritance involved the handling of iron in the brain but that there are other inherited forms

Re raising iron levels, someone on this site told me a few months ago that as the body normally calls a halt to iron absorption at a certain level which for some RLS sufferers isn't enough, by secreting a hormone which tells us to stop absorbing, the way to fool this and raise the level is to take Ferrous Bisglycinate every 2 evening, along with a source of Vit C to aid absorption and on an empty stomach. After the 1st night the blocking hormone appears so no more will be absorbed but if you don't take it on night 2 the hormone level falls again so the iron is absorbed on day 3 and ongoing on alternate nights.

That made a lot of sense to me.

Reply

You may also like...