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Ezembe

Page 9

by Jeffrey L. Morris


  “Well, these are some of your kid’s cells. Bog standard for the most part. However, can you see the mitochondria?”

  “Um, I think so. Hard for me to pick out cell components in one of these.” Karen flipped her hair out of her eye and squinted into the lens. “You have to remember, I don’t live in nerd-land like you do.”

  “Try a holiday there for a week. It’s like Acapulco,” Pat said. “But look, they’re hard to see there, all right, but what caught my eye was that they are a bit on the large side, so I zapped them into the electron ’scope and…” He picked up his laptop and placed it on the worktop. “…came up with this. Here’s a picture of a mitochondrion from one of his cells. Everything else in his cells appears relatively normal, but these are unusually large.”

  “Okay. Well, that’s interesting.”

  “It gets a good bit more interesting.” Pat held a pencil point to the sausage-shaped object on the screen. “If you will observe the matrix in this mitochondrion, you’ll note that the architecture is extremely unusual. Feck it, it’s impossible.”

  Karen peered at it, and the tight zig-zag of the matrix was much fussier, even Byzantine, compared to the gentle folds of those she had seen elsewhere.

  Pat continued, “I have never seen or heard of anything like this. It’s incredible. I’ve looked everywhere for a reference that would lead me to another example like this, but nothing. The inner membrane is not only more intricate, but if you look here, it seems to have multiple tubules running through it. I would hazard a guess that, for starters, his adenosine triphosphate production capacity is at least one hundred and thirty percent the human average. Probably a lot more.”

  Karen’s eyes were wide now. “What?”

  “Even plant mitochondria aren’t this different. Mitochondria are tiny, tiny things. Large mutations are rare, and the organism never even survives. But this? What the hell is he going to do with all the extra energy he’s making? And what are the cells doing with all of that ATP? I’ll say this: if he ever takes a shine to sports, he’ll end up a one-man Olympic team.” Pat brought up a different screen with an overall view of a cell. “Look at some of the other organelles in the cell. Indeed, they all seem slightly unusual. Most are marginally larger in size, but nothing compared to those mighty mitochondria.” He circled the whole of the cell with a dramatic flourish. “I’m going to have a good look around his T-cells in particular. If these hopped-up cells of his are aiding in production of antibodies, it might explain why he never gets sick.”

  Karen was flabbergasted, speechless.

  “The thing is, darlin’, that since mitochondrial DNA can only be inherited from the mummy, he had to have gotten these puppies from you.”

  “You think I have these things, too?”

  “One way to find out.” Pat held up a cotton swab. “Open wide!”

  It took Pat little time to prepare the samples for both the optical and electron ’scopes. Karen’s cells appeared normal. They were normal. Her mitochondria were as plain as white bread.

  Pat stuck his tongue into the corner of his mouth. “Well, now, that’s a puzzler, isn’t it?” he said.

  “So you’re thinking some sort of mutation caused this in James? Some kind of damage?”

  “Well, James is not displaying symptoms of any mito-related disease that I can think of. In any case, disease is not the first thing that springs to mind when you look at these cells. If it were a mitochondrial disorder, most patients would present with, say, ocular difficulties or some such. On the other hand, any mutation should only improve an organism once in a blue moon. A mutation of this scale should upset the apple cart big time,” Pat paused in thought, then added, “But that’s not to say that this aberration couldn’t be causing him difficulties. For example, schizophrenia has been associated with mitochondrial abnormalities.”

  Pat winced as he saw Karen’s heart shrivel. She’d know that, of course. He reached around her shoulders and hugged her clumsily. “Cheer up, love. We have a ways to go with this one. I’ll get both of your DNA samples to the lab, and we should have the results, umm, hopefully Thursday. That might shine a bit of light on all this. If nothing else, it should certainly narrow things down.”

  “I don’t know. I don’t know,” was all Karen could say. Pat knew he had gone a bit too far with the schizophrenia remark, and cursed himself for it. “Sorry, petal. Don’t worry; we’re going to look after this boy of yours.” He hugged her again, and kissed her forehead.

  ~* * *~

  As a scientist, Karen knew better than to get wound up prior to all available facts being in, a notion easy enough to apply when it’s someone else’s child. She rode the bus home and mulled over the facts. James’ claim to hear and see things that weren’t visible didn’t exactly contra-indicate a mental disorder, and that certainly couldn’t be discounted. On the other hand, his ability to “see” disease was almost beyond dispute now. The results of Mr. Walsh’s HIV test had been positive. James had actually seen something that modern medicine had failed to spot, and that in itself was remarkable. More than remarkable—miraculous. James was not deluded, Karen believed that. She would get to the bottom of this, somehow.

  ~* * *~

  Bob Scholl’s office was opulent, full of artifacts he had gathered from the far corners of the internet. Framed fossils adorned his walls, and against one wall was an enormous glass case containing a selection of antique medical instruments, butterflies, dinosaur bones, and so on. It was overtly ostentatious, but in its favor, the room had an agreeable smell of leather and polished wood.

  Bob licked the end of his thumb and ran it over his thin blond eyebrows as he clicked through pages on his computer. A director had access to all files in the system throughout his area of responsibility. Today, he was perusing Pat Roche’s system. Pat normally shared little with Bob until all of his results were in, his stated reason being that he disliked half-cooked information flowing out of his lab. Pat told his boss that it made for poor science.

  Bob found a few tidbits relating to Patrick’s current projects, but nothing out of the ordinary. He grimaced, and mumbled some very nasty things under his breath.

  Pat made a habit of using his own laptop instead of the assigned PCs, and Bob sometimes thought that he did it specifically to annoy him. His suspicions were well founded; Pat delighted in pissing Bob off at every opportunity. Bob always knew, of course, but he suspected that Pat was keeping something big from him this time. He knew from experience that it was pointless asking Pat’s students and assistants; they were misguidedly loyal. “Damned Mick and his damned personality cult,” he muttered. And in Bob’s view, Karen had also become one of Pat’s camp followers. He regarded this as the unkindest cut of all, as it had been he who had hired Karen and championed her research fellowship. Though Karen was without tenure, unlike Pat, Bob considered her work extremely important to the University. More to the point, she was one of the motors that drove his career.

  Bob continued to rummage, finding virtually nothing of value, until one file, cryptically labeled rsch PdaB, caught his eye. He opened it. It unfurled as a flash animation of Pat’s head on a cartoon body, dancing a jig to Irish “diddly idla dee” music.

  “Idiot,” Bob snorted.

  He broke into Pat’s e-mail, and in no time discovered one requesting a DNA analysis of two research subjects labeled “T&S”. He also found a full blood work ordered on subject “S”, which was probably already back with Dr. Roche. Bob crosschecked his own files for corresponding information on those subjects, and found nothing. He searched the remainder of Pat’s e-mails—nothing.

  As much as Bob disliked Pat personally, the irascible Irishman had been coming up with the goods since the day he had arrived, almost single-handedly placing the department firmly on the research map. Bob needed Pat Roche and he knew it, but he needed him under control.

  He e-mailed the lab, telling them to supply a copy of the results to him as well.

  Fifteen

&nb
sp; Karen wiped the sleep from her eyes, and shooed James away from the stove to a seat at the counter. She set the coffee to brew, and snatched a few mugs from the cabinet. She’d had little to say about her conversation with Pat, but had asked James to come in with her that morning when the DNA samples were returned. It would be better if Pat explained all of this to him.

  “So do you think the mad scientist will have all the answers for us today?” James asked.

  “He’s not a mad scientist!” Karen insisted. She poured the coffee and slid one to James. “Well, maybe a little. I don’t honestly know, James. This is a process, and it’s not like diagnosing MS or something. Whatever your story is, it seems to be a first.” She stirred around and around, far longer than necessary.

  “Okay, but it’s probably some sort of deficiency or something that makes me sense these things, right? It’s not a tumor or anything?”

  “We have no idea. It’s best to just leave it until we get there.”

  “So what’s the worry? Something else going on?”

  “No, there’s nothing else. It’s just...”

  “Just what?”

  “Pat found some unusual things when he was looking at your cells.”

  “Oh? Do tell,” James said evenly.

  “Yes, it’s nothing to be concerned about. There were...things that you have probably always had.”

  “All right, so not a big deal, then?”

  “Well, no. Doesn’t look like it. Apparently, you’re as healthy as a horse, and always have been.”

  “Right, so what are these ‘things’ he found?”

  She needed to keep it simple, but it simply wasn’t. Pat had suggested that it would take a team a lifetime to figure this out, and he wasn’t wrong. “Here’s the thing: Pat found that your mitochondria are a little enlarged.”

  “Is that serious? I’ve never even heard of them.”

  “Well, we don’t know, and it’s likely nobody else does, either. It just doesn’t happen. It could explain why you are so healthy. It’s complicated, but these are the things that make the food that feed your cells. They’re what give your body its energy.”

  “Oh? That doesn’t sound so bad.”

  “It probably isn’t, but abnormalities in the mitochondria can cause problems. You don’t appear to have symptoms for any of those, though.” Karen gazed blankly through the window. A red tanager merrily pulled seeds from a feeder she’d hung.

  “Okay, well, why don’t you get dressed, and we’ll get down there. He’s getting the DNA today, right? Maybe that will tell us.”

  “Well, it doesn’t work like that, honey. This is something new. But I’m hoping he’ll have a few more ideas, anyhow.”

  Pat wasn’t in his lab when they arrived. Karen showed James around, let him look through the microscope at some cells—not his own—and generally passed some time while they waited. Pat danced through the door in due course, singing “Oh, Susannah”. He wore a tie made of stainless steel, corrugated like a washboard, and was scraping a pair of thimbles along it as he sang.

  “Hi, boys and girls! How are we today?”

  Karen barely batted an eye, though he’d made her smile in spite of herself. James was a little taken aback. Pat was an acquired taste.

  Karen said, “Just fine, Pat. You’re in a good mood today.”

  “Sure, no point in being anything else. Hey, Jimmy, cheer up! You look like you’ve seen something frightenin’.” Pat put his arm around him, pulled him close, and laughed until James cracked a smile. “Okie-doke. Has your mum explained the state of play to you?” Karen nodded. “Right, well, here is where we get some answers.”

  Pat snagged a fingernail underneath the flap of a manila envelope and tore it open. “And the winner is...” He giggled, and then perused the results. Confusion washed over his face as he flipped pages. He glanced up over the paper and said, “It might take a little time to go through all this data. I’m going to need some coffee to get the brain cells fired up. Jimmy, would you be a star and pick us up some lattes?”

  “Yeah, sure.” James hopped off the stool. “Three?”

  “If you’re havin’ one.”

  When James was out of earshot, Karen asked, “Okay, what’s the story?” Pat handed her a sheet from each of the packs. “This is your mitochondrial DNA, and this is his. I got rid of the kid because I wanted to ask you a quick couple of questions in private.”

  “Go on.”

  “Now take no offense with any of these, but I need to ask.”

  “Just ask already.”

  Pat jumped onto a stool. The steel tie poked him in the gut. He grunted and tore it off. “Right, well, as you can see there, there are considerable differences between James’ mitochondrial DNA and yours. They should be identical.” He picked up two more sheets. “Comparing your standard DNA with his, however, it’s clear that you are his mother.” He looked over the rim of his glasses, straight into her eyes. “You are his mother, right?”

  “Yes!” Karen snapped.

  “Right, don’t get your panties in a twist.” Pat squinted. “And there was no IVF or anything like that involved?”

  “No, Pat. I told you the story about James’ father. That’s how it happened.”

  “And no abnormally high radiation exposure or other environmental factors during pregnancy?”

  “Nope. Well, he was conceived in a hospital, but we didn’t do it in the X-ray machines!”

  “Right, then. They were unable to define any haplogroup for him.”

  “None at all? His mitochondrial DNA just sprang out of nowhere? That’s impossible.”

  “Well, it will take some going through to say that, but looking at this data, Hyper-Variable Region Two looks pretty normal. Look here—compared to yours, even though it is obviously not the same, as you would expect in a parent-child match, it is close enough where you had a fairly recent ancestor, but not so recent as to explain this. But if you look at HVR-1, it has some radical differences.”

  “Yes, I can see that. Here, and here also.”

  “Yes, that’s right. I’d venture to say you would be hard pressed to find mtDNA like this anywhere else, in anyone else. Even any other species.”

  Karen had been at least partly prepared for something like this, but the implication simply bowled her over.

  “This isn’t possible! It has to be a mistake. Everything, and I mean every animal on Earth, gets its mtDNA from the maternal parent.”

  “Ah, actually, not so. There are a few animals, barnacles for instance, that don’t.”

  “He’s not a fucking crustacean, Pat!”

  “Ah, you’re right there, but there is also a woman alive now who inherited her father’s mtDNA. Her case appears to be quite different from James’, in that her cells work at considerably less than normal efficiency. Poor girl is tired all the time, but apparently it can happen.”

  “So only one other human? What about other mammals? Or even vertebrates?”

  “Well, in fact it appears that there are a few other humans who have probably inherited their fathers’ mtDNA. A little over ten years ago a child was found dead in England, murdered in some weird religious ceremony, apparently. Very little was left of the body, and in an attempt to identify him, Scotland Yard used standard as well as mitochondrial DNA to try and track down his relatives.”

  “Oh, how awful! Nobody had reported him as missing?”

  “No, and apparently this led them to believe he had been brought to England by someone other than his family.”

  “How old was he?”

  “About seven, they thought.”

  “Oh, God!”

  “Anyhow, the search took them to West Africa. The haplotype was about right for that region, and it didn’t take them long to zero in on an area where they found some people related to the boy. They never did find any immediate family, though.”

  “So how did they know this child’s mtDNA differed from his mother’s?”

  “Oh, sorry, love,
I’m confusing you! They didn’t. While they were testing all of these people, they came across three children that did not have their mothers’ mtDNA. Two were brothers, and a third child, a cousin of theirs.”

  “And their mitochondria were like James’?”

  “I don’t know. The anomaly was recorded, but these were cops, not scientists, so apparently it wasn’t followed up. All that’s known about them is what I’ve just told you.”

  “That’s huge!”

  “I know! But I have no idea how this fits in here. It could be that the mechanism in the mother’s egg that kills off the father’s mtDNA just fails on occasion, but the fact that these three boys are related would indicate that a paternal strain has evolved that defeats that mechanism, or that there is a maternal strain that fails to kill off the father’s mtDNA.”

  “So which of those is likely here?”

  Pat threw his hands in the air. “It’s anyone’s guess! It could be something else again.”

  “Well, James’ father did work in Biafra in the Seventies.”

  “Coincidence, has to be. You know yourself that the environment has nothing to do with inherited characteristics.”

  “Yeah, I know. This is just, just—I don’t know what this is.”

  “Well, that doesn’t stop us trying to find out. After all, we are scientists!” Pat said in a grand voice, as if announcing Superman.

  “So now what?”

  “Well, any suggestions yourself?” Pat asked. “I’m wide open.”

  “Well, I think a closer look at which genes are at the root of this would be a good start.”

  “I was thinking of something a bit closer to home. Can you track down his father?”

  It was obvious. Karen hadn’t heard from or seen Rich since he’d left St. Francis, and she’d never even thought of looking for him till then. “It might take a bit of doing, but I can try.” She paused, then said, “Well, I’ll just have to, won’t I?”

  James returned, toting the coffee, and asked, “Have to what?”

 

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